(used for mutation description)
(last modified April 30, 2014)
This file was created to facilitate the description of sequence variants in the CFH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering CFH transcript NM_000186.3.
(upstream sequence)
. . . . . . g.1060
acagcattaacatttagtgggagtgcagtgagaattgggtttaacttctggcatttctgg c.-181
. . . . . . g.1120
gcttgtggcttgtggttgattttttatttactttgcaaaagtttctgataggcggagcat c.-121
. . . . . . g.1180
ctagtttcaacttccttttgcagcaagttctttcctgcactaatcacaattcttggaaga c.-61
. . . . . . g.1240
ggagaactggacgttgtgaacagagttagctggtaaatgtcctcttaaaagatccaaaaa c.-1
. . . . . | 02 g.22102
ATGAGACTTCTAGCAAAGATTATTTGCCTTATGTTATGGGCTATTTGTGTAGCAGAAG | AT c.60
M R L L A K I I C L M L W A I C V A E D | p.20
. . . . . . g.22162
TGCAATGAACTTCCTCCAAGAAGAAATACAGAAATTCTGACAGGTTCCTGGTCTGACCAA c.120
C N E L P P R R N T E I L T G S W S D Q p.40
. . . . . . g.22222
ACATATCCAGAAGGCACCCAGGCTATCTATAAATGCCGCCCTGGATATAGATCTCTTGGA c.180
T Y P E G T Q A I Y K C R P G Y R S L G p.60
. . . . . . g.22282
AATGTAATAATGGTATGCAGGAAGGGAGAATGGGTTGCTCTTAATCCATTAAGGAAATGT c.240
N V I M V C R K G E W V A L N P L R K C p.80
| 03 . . . . . . g.23035
CAGA | AAAGGCCCTGTGGACATCCTGGAGATACTCCTTTTGGTACTTTTACCCTTACAGGA c.300
Q K | R P C G H P G D T P F G T F T L T G p.100
. . . . . | 04 . g.25121
GGAAATGTGTTTGAATATGGTGTAAAAGCTGTGTATACATGTAATGAGGG | GTATCAATTG c.360
G N V F E Y G V K A V Y T C N E G | Y Q L p.120
. . . . . . g.25181
CTAGGTGAGATTAATTACCGTGAATGTGACACAGATGGATGGACCAATGATATTCCTATA c.420
L G E I N Y R E C D T D G W T N D I P I p.140
| 05. . . . . . g.26651
TGTGAAG | TTGTGAAGTGTTTACCAGTGACAGCACCAGAGAATGGAAAAATTGTCAGTAGT c.480
C E V | V K C L P V T A P E N G K I V S S p.160
. . . . . . g.26711
GCAATGGAACCAGATCGGGAATACCATTTTGGACAAGCAGTACGGTTTGTATGTAACTCA c.540
A M E P D R E Y H F G Q A V R F V C N S p.180
. . . . . . g.26771
GGCTACAAGATTGAAGGAGATGAAGAAATGCATTGTTCAGACGATGGTTTTTGGAGTAAA c.600
G Y K I E G D E E M H C S D D G F W S K p.200
. | 06 . . . . g.28786
GAGAAACCAAAGTGTGTGG | AAATTTCATGCAAATCCCCAGATGTTATAAATGGATCTCCT c.660
E K P K C V E | I S C K S P D V I N G S P p.220
. . . . . . g.28846
ATATCTCAGAAGATTATTTATAAGGAGAATGAACGATTTCAATATAAATGTAACATGGGT c.720
I S Q K I I Y K E N E R F Q Y K C N M G p.240
. . . . . . g.28906
TATGAATACAGTGAAAGAGGAGATGCTGTATGCACTGAATCTGGATGGCGTCCGTTGCCT c.780
Y E Y S E R G D A V C T E S G W R P L P p.260
. | 07 . . . . . g.34236
TCATGTGAAG | AAAAATCATGTGATAATCCTTATATTCCAAATGGTGACTACTCACCTTTA c.840
S C E E | K S C D N P Y I P N G D Y S P L p.280
. . . . . . g.34296
AGGATTAAACACAGAACTGGAGATGAAATCACGTACCAGTGTAGAAATGGTTTTTATCCT c.900
R I K H R T G D E I T Y Q C R N G F Y P p.300
. . . . . . g.34356
GCAACCCGGGGAAATACAGCAAAATGCACAAGTACTGGCTGGATACCTGCTCCGAGATGT c.960
A T R G N T A K C T S T G W I P A P R C p.320
| 08 . . . . . . g.38598
ACCT | TGAAACCTTGTGATTATCCAGACATTAAACATGGAGGTCTATATCATGAGAATATG c.1020
T L | K P C D Y P D I K H G G L Y H E N M p.340
. . . . . . g.38658
CGTAGACCATACTTTCCAGTAGCTGTAGGAAAATATTACTCCTATTACTGTGATGAACAT c.1080
R R P Y F P V A V G K Y Y S Y Y C D E H p.360
. . . . . . g.38718
TTTGAGACTCCGTCAGGAAGTTACTGGGATCACATTCATTGCACACAAGATGGATGGTCG c.1140
F E T P S G S Y W D H I H C T Q D G W S p.380
. | 09 . . . . g.39226
CCAGCAGTACCATGCCTCA | GAAAATGTTATTTTCCTTATTTGGAAAATGGATATAATCAA c.1200
P A V P C L R | K C Y F P Y L E N G Y N Q p.400
. . . . . . g.39286
AATCATGGAAGAAAGTTTGTACAGGGTAAATCTATAGACGTTGCCTGCCATCCTGGCTAC c.1260
N H G R K F V Q G K S I D V A C H P G Y p.420
. . . . . . g.39346
GCTCTTCCAAAAGCGCAGACCACAGTTACATGTATGGAGAATGGCTGGTCTCCTACTCCC c.1320
A L P K A Q T T V T C M E N G W S P T P p.440
. | 10 . . . . . g.62901
AGATGCATCCGTGTCA | AAACATGTTCCAAATCAAGTATAGATATTGAGAATGGGTTTATT c.1380
R C I R V K | T C S K S S I D I E N G F I p.460
. . . . . . g.62961
TCTGAATCTCAGTATACATATGCCTTAAAAGAAAAAGCGAAATATCAATGCAAACTAGGA c.1440
S E S Q Y T Y A L K E K A K Y Q C K L G p.480
. . . . . . g.63021
TATGTAACAGCAGATGGTGAAACATCAGGATCAATTACATGTGGGAAAGATGGATGGTCA c.1500
Y V T A D G E T S G S I T C G K D G W S p.500
. | 11 . . . . g.64756
GCTCAACCCACGTGCATTA | AATCTTGTGATATCCCAGTATTTATGAATGCCAGAACTAAA c.1560
A Q P T C I K | S C D I P V F M N A R T K p.520
. . . . . . g.64816
AATGACTTCACATGGTTTAAGCTGAATGACACATTGGACTATGAATGCCATGATGGTTAT c.1620
N D F T W F K L N D T L D Y E C H D G Y p.540
. . . . . . g.64876
GAAAGCAATACTGGAAGCACCACTGGTTCCATAGTGTGTGGTTACAATGGTTGGTCTGAT c.1680
E S N T G S T T G S I V C G Y N G W S D p.560
. | 12 . . . . . g.74287
TTACCCATATGTTATG | AAAGAGAATGCGAACTTCCTAAAATAGATGTACACTTAGTTCCT c.1740
L P I C Y E | R E C E L P K I D V H L V P p.580
. . . . . . g.74347
GATCGCAAGAAAGACCAGTATAAAGTTGGAGAGGTGTTGAAATTCTCCTGCAAACCAGGA c.1800
D R K K D Q Y K V G E V L K F S C K P G p.600
. . . . . . g.74407
TTTACAATAGTTGGACCTAATTCCGTTCAGTGCTACCACTTTGGATTGTCTCCTGACCTC c.1860
F T I V G P N S V Q C Y H F G L S P D L p.620
. | 13 . . . . . g.75639
CCAATATGTAAAG | AGCAAGTACAATCATGTGGTCCACCTCCTGAACTCCTCAATGGGAAT c.1920
P I C K E | Q V Q S C G P P P E L L N G N p.640
. . . . . . g.75699
GTTAAGGAAAAAACGAAAGAAGAATATGGACACAGTGAAGTGGTGGAATATTATTGCAAT c.1980
V K E K T K E E Y G H S E V V E Y Y C N p.660
. . . . . . g.75759
CCTAGATTTCTAATGAAGGGACCTAATAAAATTCAATGTGTTGATGGAGAGTGGACAACT c.2040
P R F L M K G P N K I Q C V D G E W T T p.680
. | 14 . . . . . g.75927
TTACCAGTGTGTATTG | TGGAGGAGAGTACCTGTGGAGATATACCTGAACTTGAACATGGC c.2100
L P V C I V | E E S T C G D I P E L E H G p.700
. . . . . . g.75987
TGGGCCCAGCTTTCTTCCCCTCCTTATTACTATGGAGATTCAGTGGAATTCAATTGCTCA c.2160
W A Q L S S P P Y Y Y G D S V E F N C S p.720
. . . . . . g.76047
GAATCATTTACAATGATTGGACACAGATCAATTACGTGTATTCATGGAGTATGGACCCAA c.2220
E S F T M I G H R S I T C I H G V W T Q p.740
. | 15 . . . . . g.77512
CTTCCCCAGTGTGTGG | CAATAGATAAACTTAAGAAGTGCAAATCATCAAATTTAATTATA c.2280
L P Q C V A | I D K L K K C K S S N L I I p.760
. . . . . . g.77572
CTTGAGGAACATTTAAAAAACAAGAAGGAATTCGATCATAATTCTAACATAAGGTACAGA c.2340
L E E H L K N K K E F D H N S N I R Y R p.780
. . . . . . g.77632
TGTAGAGGAAAAGAAGGATGGATACACACAGTCTGCATAAATGGAAGATGGGATCCAGAA c.2400
C R G K E G W I H T V C I N G R W D P E p.800
. | 16 . . . . . g.85993
GTGAACTGCTCAA | TGGCACAAATACAATTATGCCCACCTCCACCTCAGATTCCCAATTCT c.2460
V N C S M | A Q I Q L C P P P P Q I P N S p.820
. . . . . . g.86053
CACAATATGACAACCACACTGAATTATCGGGATGGAGAAAAAGTATCTGTTCTTTGCCAA c.2520
H N M T T T L N Y R D G E K V S V L C Q p.840
. . . . . . g.86113
GAAAATTATCTAATTCAGGAAGGAGAAGAAATTACATGCAAAGATGGAAGATGGCAGTCA c.2580
E N Y L I Q E G E E I T C K D G R W Q S p.860
. | 17 . . . . . g.86641
ATACCACTCTGTGTTG | AAAAAATTCCATGTTCACAACCACCTCAGATAGAACACGGAACC c.2640
I P L C V E | K I P C S Q P P Q I E H G T p.880
. . . . . . g.86701
ATTAATTCATCCAGGTCTTCACAAGAAAGTTATGCACATGGGACTAAATTGAGTTATACT c.2700
I N S S R S S Q E S Y A H G T K L S Y T p.900
. . . . . . g.86761
TGTGAGGGTGGTTTCAGGATATCTGAAGAAAATGAAACAACATGCTACATGGGAAAATGG c.2760
C E G G F R I S E E N E T T C Y M G K W p.920
. . | 18 . . . . g.89779
AGTTCTCCACCTCAGTGTGAAG | GCCTTCCTTGTAAATCTCCACCTGAGATTTCTCATGGT c.2820
S S P P Q C E G | L P C K S P P E I S H G p.940
. . . . . . g.89839
GTTGTAGCTCACATGTCAGACAGTTATCAGTATGGAGAAGAAGTTACGTACAAATGTTTT c.2880
V V A H M S D S Y Q Y G E E V T Y K C F p.960
. . . . . . g.89899
GAAGGTTTTGGAATTGATGGGCCTGCAATTGCAAAATGCTTAGGAGAAAAATGGTCTCAC c.2940
E G F G I D G P A I A K C L G E K W S H p.980
. | 19 . . . . . g.91041
CCTCCATCATGCATAA | AAACAGATTGTCTCAGTTTACCTAGCTTTGAAAATGCCATACCC c.3000
P P S C I K | T D C L S L P S F E N A I P p.1000
. . . . . . g.91101
ATGGGAGAGAAGAAGGATGTGTATAAGGCGGGTGAGCAAGTGACTTACACTTGTGCAACA c.3060
M G E K K D V Y K A G E Q V T Y T C A T p.1020
. . . . . . g.91161
TATTACAAAATGGATGGAGCCAGTAATGTAACATGCATTAATAGCAGATGGACAGGAAGG c.3120
Y Y K M D G A S N V T C I N S R W T G R p.1040
. | 20 . . . . . g.92621
CCAACATGCAGAG | ACACCTCCTGTGTGAATCCGCCCACAGTACAAAATGCTTATATAGTG c.3180
P T C R D | T S C V N P P T V Q N A Y I V p.1060
. . . . . . g.92681
TCGAGACAGATGAGTAAATATCCATCTGGTGAGAGAGTACGTTATCAATGTAGGAGCCCT c.3240
S R Q M S K Y P S G E R V R Y Q C R S P p.1080
. . . . . . g.92741
TATGAAATGTTTGGGGATGAAGAAGTGATGTGTTTAAATGGAAACTGGACGGAACCACCT c.3300
Y E M F G D E E V M C L N G N W T E P P p.1100
. | 21 . . . . . g.94989
CAATGCAAAG | ATTCTACAGGAAAATGTGGGCCCCCTCCACCTATTGACAATGGGGACATT c.3360
Q C K D | S T G K C G P P P P I D N G D I p.1120
. . . . . . g.95049
ACTTCATTCCCGTTGTCAGTATATGCTCCAGCTTCATCAGTTGAGTACCAATGCCAGAAC c.3420
T S F P L S V Y A P A S S V E Y Q C Q N p.1140
. . . . . . g.95109
TTGTATCAACTTGAGGGTAACAAGCGAATAACATGTAGAAATGGACAATGGTCAGAACCA c.3480
L Y Q L E G N K R I T C R N G Q W S E P p.1160
. | 22 . . . . . g.96280
CCAAAATGCTTAC | ATCCGTGTGTAATATCCCGAGAAATTATGGAAAATTATAACATAGCA c.3540
P K C L H | P C V I S R E I M E N Y N I A p.1180
. . . . . . g.96340
TTAAGGTGGACAGCCAAACAGAAGCTTTATTCGAGAACAGGTGAATCAGTTGAATTTGTG c.3600
L R W T A K Q K L Y S R T G E S V E F V p.1200
. . . . . . g.96400
TGTAAACGGGGATATCGTCTTTCATCACGTTCTCACACATTGCGAACAACATGTTGGGAT c.3660
C K R G Y R L S S R S H T L R T T C W D p.1220
. . . g.96436
GGGAAACTGGAGTATCCAACTTGTGCAAAAAGATAG c.3696
G K L E Y P T C A K R X p.1231
. . . . . . g.96496
aatcaatcataaagtgcacacctttattcagaactttagtattaaatcagttctcaattt c.*60
. . . . . . g.96556
cattttttatgtattgttttactcctttttattcatacgtaaaattttggattaatttgt c.*120
. . . . . . g.96616
gaaaatgtaattataagctgagaccggtggctctcttcttaaaagcaccatattaaatcc c.*180
. g.96627
tggaaaactaa c.*191
(downstream sequence)
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