(used for variant description)
(last modified June 6, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000238.3 in the KCNH2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering KCNH2 transcript NM_000238.3.
(upstream sequence)
. . . . g.5041
ccgcggccgggccgagccgcaggcgctgcccgagccgcggg c.-361
. . . . . . g.5101
cgctggagcggctgtcggcgcggtggcaggcgggagccaggagtccggggctcgggcggg c.-301
. . . . . . g.5161
cggagcgcagcgcggggacgcggcggagcgggccccgcggctcggcgggggccggcagac c.-241
. . . . . . g.5221
aggtgtgccggcggcgggcggctcgcgctcaggcggctccaggccgggcccggggtccgg c.-181
. . . . . . g.5281
agcggggagccgggagccgagcgaggacccggcgcccgcagtccagtcttggccgcgccc c.-121
. . . . . . g.5341
gtgctcggcttggccgcggggtgcggggaccacggcccggccgggccacccgaagcctag c.-61
. . . . . . g.5401
tgctgggccgggccgggccggggtgggtgggggcccgcccggcccgcccatgggctcagg c.-1
. . . . . . g.5461
ATGCCGGTGCGGAGGGGCCACGTCGCGCCGCAGAACACCTTCCTGGACACCATCATCCGC c.60
M P V R R G H V A P Q N T F L D T I I R p.20
. | 02 . . . . . g.8417
AAGTTTGAGGGCCAGA | GCCGTAAGTTCATCATCGCCAACGCTCGGGTGGAGAACTGCGCC c.120
K F E G Q S | R K F I I A N A R V E N C A p.40
. . . . . . g.8477
GTCATCTACTGCAACGACGGCTTCTGCGAGCTGTGCGGCTACTCGCGGGCCGAGGTGATG c.180
V I Y C N D G F C E L C G Y S R A E V M p.60
. . . . . . g.8537
CAGCGACCCTGCACCTGCGACTTCCTGCACGGGCCGCGCACGCAGCGCCGCGCTGCCGCG c.240
Q R P C T C D F L H G P R T Q R R A A A p.80
. . . . . . g.8597
CAGATCGCGCAGGCACTGCTGGGCGCCGAGGAGCGCAAAGTGGAAATCGCCTTCTACCGG c.300
Q I A Q A L L G A E E R K V E I A F Y R p.100
| 03. . . . . . g.23631
AAAGATG | GGAGCTGCTTCCTATGTCTGGTGGATGTGGTGCCCGTGAAGAACGAGGATGGG c.360
K D G | S C F L C L V D V V P V K N E D G p.120
. . . . . . g.23691
GCTGTCATCATGTTCATCCTCAATTTCGAGGTGGTGATGGAGAAGGACATGGTGGGGTCC c.420
A V I M F I L N F E V V M E K D M V G S p.140
. . . . . | 04 . g.24820
CCGGCTCATGACACCAACCACCGGGGCCCCCCCACCAGCTGGCTGGCCCCAG | GCCGCGCC c.480
P A H D T N H R G P P T S W L A P G | R A p.160
. . . . . . g.24880
AAGACCTTCCGCCTGAAGCTGCCCGCGCTGCTGGCGCTGACGGCCCGGGAGTCGTCGGTG c.540
K T F R L K L P A L L A L T A R E S S V p.180
. . . . . . g.24940
CGGTCGGGCGGCGCGGGCGGCGCGGGCGCCCCGGGGGCCGTGGTGGTGGACGTGGACCTG c.600
R S G G A G G A G A P G A V V V D V D L p.200
. . . . . . g.25000
ACGCCCGCGGCACCCAGCAGCGAGTCGCTGGCCCTGGACGAAGTGACAGCCATGGACAAC c.660
T P A A P S S E S L A L D E V T A M D N p.220
. . . . . . g.25060
CACGTGGCAGGGCTCGGGCCCGCGGAGGAGCGGCGTGCGCTGGTGGGTCCCGGCTCTCCG c.720
H V A G L G P A E E R R A L V G P G S P p.240
. . . . . . g.25120
CCCCGCAGCGCGCCCGGCCAGCTCCCATCGCCCCGGGCGCACAGCCTCAACCCCGACGCC c.780
P R S A P G Q L P S P R A H S L N P D A p.260
. . . . . . g.25180
TCGGGCTCCAGCTGCAGCCTGGCCCGGACGCGCTCCCGAGAAAGCTGCGCCAGCGTGCGC c.840
S G S S C S L A R T R S R E S C A S V R p.280
. . . . . . g.25240
CGCGCCTCGTCGGCCGACGACATCGAGGCCATGCGCGCCGGGGTGCTGCCCCCGCCACCG c.900
R A S S A D D I E A M R A G V L P P P P p.300
. | 05 . . . . . g.25856
CGCCACGCCAGCACCG | GGGCCATGCACCCACTGCGCAGCGGCTTGCTCAACTCCACCTCG c.960
R H A S T G | A M H P L R S G L L N S T S p.320
. . . . . . g.25916
GACTCCGACCTCGTGCGCTACCGCACCATTAGCAAGATTCCCCAAATCACCCTCAACTTT c.1020
D S D L V R Y R T I S K I P Q I T L N F p.340
. . . . . . g.25976
GTGGACCTCAAGGGCGACCCCTTCTTGGCTTCGCCCACCAGTGACCGTGAGATCATAGCA c.1080
V D L K G D P F L A S P T S D R E I I A p.360
. . . . | 06 . g.30473
CCTAAGATAAAGGAGCGAACCCACAATGTCACTGAGAAGGTCACCCAG | GTCCTGTCCCTG c.1140
P K I K E R T H N V T E K V T Q | V L S L p.380
. . . . . . g.30533
GGCGCCGACGTGCTGCCTGAGTACAAGCTGCAGGCACCGCGCATCCACCGCTGGACCATC c.1200
G A D V L P E Y K L Q A P R I H R W T I p.400
. . . . . . g.30593
CTGCATTACAGCCCCTTCAAGGCCGTGTGGGACTGGCTCATCCTGCTGCTGGTCATCTAC c.1260
L H Y S P F K A V W D W L I L L L V I Y p.420
. . . . . . g.30653
ACGGCTGTCTTCACACCCTACTCGGCTGCCTTCCTGCTGAAGGAGACGGAAGAAGGCCCG c.1320
T A V F T P Y S A A F L L K E T E E G P p.440
. . . . . . g.30713
CCTGCTACCGAGTGTGGCTACGCCTGCCAGCCGCTGGCTGTGGTGGACCTCATCGTGGAC c.1380
P A T E C G Y A C Q P L A V V D L I V D p.460
. . . . . . g.30773
ATCATGTTCATTGTGGACATCCTCATCAACTTCCGCACCACCTACGTCAATGCCAACGAG c.1440
I M F I V D I L I N F R T T Y V N A N E p.480
. . . . . . g.30833
GAGGTGGTCAGCCACCCCGGCCGCATCGCCGTCCACTACTTCAAGGGCTGGTTCCTCATC c.1500
E V V S H P G R I A V H Y F K G W F L I p.500
. . . . . | 07. g.31482
GACATGGTGGCCGCCATCCCCTTCGACCTGCTCATCTTCGGCTCTGGCTCTGAGGAG | CTG c.1560
D M V A A I P F D L L I F G S G S E E | L p.520
. . . . . . g.31542
ATCGGGCTGCTGAAGACTGCGCGGCTGCTGCGGCTGGTGCGCGTGGCGCGGAAGCTGGAT c.1620
I G L L K T A R L L R L V R V A R K L D p.540
. . . . . . g.31602
CGCTACTCAGAGTACGGCGCGGCCGTGCTGTTCTTGCTCATGTGCACCTTTGCGCTCATC c.1680
R Y S E Y G A A V L F L L M C T F A L I p.560
. . . . . . g.31662
GCGCACTGGCTAGCCTGCATCTGGTACGCCATCGGCAACATGGAGCAGCCACACATGGAC c.1740
A H W L A C I W Y A I G N M E Q P H M D p.580
. . . . . . g.31722
TCACGCATCGGCTGGCTGCACAACCTGGGCGACCAGATAGGCAAACCCTACAACAGCAGC c.1800
S R I G W L H N L G D Q I G K P Y N S S p.600
. . . . . . g.31782
GGCCTGGGCGGCCCCTCCATCAAGGACAAGTATGTGACGGCGCTCTACTTCACCTTCAGC c.1860
G L G G P S I K D K Y V T A L Y F T F S p.620
. . . . . . g.31842
AGCCTCACCAGTGTGGGCTTCGGCAACGTCTCTCCCAACACCAACTCAGAGAAGATCTTC c.1920
S L T S V G F G N V S P N T N S E K I F p.640
. . | 08 . . . . g.32229
TCCATCTGCGTCATGCTCATTGGCT | CCCTCATGTATGCTAGCATCTTCGGCAACGTGTCG c.1980
S I C V M L I G S | L M Y A S I F G N V S p.660
. . . . . . g.32289
GCCATCATCCAGCGGCTGTACTCGGGCACAGCCCGCTACCACACACAGATGCTGCGGGTG c.2040
A I I Q R L Y S G T A R Y H T Q M L R V p.680
. . . . . . g.32349
CGGGAGTTCATCCGCTTCCACCAGATCCCCAATCCCCTGCGCCAGCGCCTCGAGGAGTAC c.2100
R E F I R F H Q I P N P L R Q R L E E Y p.700
. . . . | 09 . . g.32909
TTCCAGCACGCCTGGTCCTACACCAACGGCATCGACATGAACGCG | GTGCTGAAGGGCTTC c.2160
F Q H A W S Y T N G I D M N A | V L K G F p.720
. . . . . . g.32969
CCTGAGTGCCTGCAGGCTGACATCTGCCTGCACCTGAACCGCTCACTGCTGCAGCACTGC c.2220
P E C L Q A D I C L H L N R S L L Q H C p.740
. . . . . . g.33029
AAACCCTTCCGAGGGGCCACCAAGGGCTGCCTTCGGGCCCTGGCCATGAAGTTCAAGACC c.2280
K P F R G A T K G C L R A L A M K F K T p.760
. . . . . . g.33089
ACACATGCACCGCCAGGGGACACACTGGTGCATGCTGGGGACCTGCTCACCGCCCTGTAC c.2340
T H A P P G D T L V H A G D L L T A L Y p.780
. . . . . | 10 g.34267
TTCATCTCCCGGGGCTCCATCGAGATCCTGCGGGGCGACGTCGTCGTGGCCATCCTGG | GG c.2400
F I S R G S I E I L R G D V V V A I L G | p.800
. . . . . . g.34327
AAGAATGACATCTTTGGGGAGCCTCTGAACCTGTATGCAAGGCCTGGCAAGTCGAACGGG c.2460
K N D I F G E P L N L Y A R P G K S N G p.820
. . . . . . g.34387
GATGTGCGGGCCCTCACCTACTGTGACCTACACAAGATCCATCGGGACGACCTGCTGGAG c.2520
D V R A L T Y C D L H K I H R D D L L E p.840
. . . . . . g.34447
GTGCTGGACATGTACCCTGAGTTCTCCGACCACTTCTGGTCCAGCCTGGAGATCACCTTC c.2580
V L D M Y P E F S D H F W S S L E I T F p.860
. | 11 . . . . . g.34819
AACCTGCGAGAT | ACCAACATGATCCCGGGCTCCCCCGGCAGTACGGAGTTAGAGGGTGGC c.2640
N L R D | T N M I P G S P G S T E L E G G p.880
. . . . . | 12 . g.35444
TTCAGTCGGCAACGCAAGCGCAAGTTGTCCTTCCGCAGGCGCACGGACAAGG | ACACGGAG c.2700
F S R Q R K R K L S F R R R T D K D | T E p.900
. . . . . . g.35504
CAGCCAGGGGAGGTGTCGGCCTTGGGGCCGGGCCGGGCGGGGGCAGGGCCGAGTAGCCGG c.2760
Q P G E V S A L G P G R A G A G P S S R p.920
. . . . . . g.35564
GGCCGGCCGGGGGGGCCGTGGGGGGAGAGCCCGTCCAGTGGCCCCTCCAGCCCTGAGAGC c.2820
G R P G G P W G E S P S S G P S S P E S p.940
. . . . . . g.35624
AGTGAGGATGAGGGCCCAGGCCGCAGCTCCAGCCCCCTCCGCCTGGTGCCCTTCTCCAGC c.2880
S E D E G P G R S S S P L R L V P F S S p.960
. . . . . . g.35684
CCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGC c.2940
P R P P G E P P G G E P L M E D C E K S p.980
. . | 13 . . . . g.35835
AGCGACACTTGCAACCCCCTGTCAG | GCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTC c.3000
S D T C N P L S G | A F S G V S N I F S F p.1000
. . . . . . g.35895
TGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCC c.3060
W G D S R G R Q Y Q E L P R C P A P T P p.1020
. . . . . . g.35955
AGCCTCCTCAACATCCCCCTCTCCAGCCCGGGTCGGCGGCCCCGGGGCGACGTGGAGAGC c.3120
S L L N I P L S S P G R R P R G D V E S p.1040
. . . | 14 . . . g.36288
AGGCTGGATGCCCTCCAGCGCCAGCTCAACAG | GCTGGAGACCCGGCTGAGTGCAGACATG c.3180
R L D A L Q R Q L N R | L E T R L S A D M p.1060
. . . . . . g.36348
GCCACTGTCCTGCAGCTGCTACAGAGGCAGATGACGCTGGTCCCGCCCGCCTACAGTGCT c.3240
A T V L Q L L Q R Q M T L V P P A Y S A p.1080
. . . . . . g.36408
GTGACCACCCCGGGGCCTGGCCCCACTTCCACATCCCCGCTGTTGCCCGTCAGCCCCCTC c.3300
V T T P G P G P T S T S P L L P V S P L p.1100
. . . | 15 . . . g.37830
CCCACCCTCACCTTGGACTCGCTTTCTCAG | GTTTCCCAGTTCATGGCGTGTGAGGAGCTG c.3360
P T L T L D S L S Q | V S Q F M A C E E L p.1120
. . . . . . g.37890
CCCCCGGGGGCCCCAGAGCTTCCCCAAGAAGGCCCCACACGACGCCTCTCCCTACCGGGC c.3420
P P G A P E L P Q E G P T R R L S L P G p.1140
. . . . . . g.37950
CAGCTGGGGGCCCTCACCTCCCAGCCCCTGCACAGACACGGCTCGGACCCGGGCAGTTAG c.3480
Q L G A L T S Q P L H R H G S D P G S X p.1159
. . . . . . g.38010
tggggctgcccagtgtggacacgtggctcacccagggatcaaggcgctgctgggccgctc c.*60
. . . . . . g.38070
cccttggaggccctgctcaggaggccctgaccgtggaaggggagaggaactcgaaagcac c.*120
. . . . . . g.38130
agctcctcccccagcccttgggaccatcttctcctgcagtcccctgggccccagtgagag c.*180
. . . . . . g.38190
gggcaggggcagggccggcagtaggtggggcctgtggtccccccactgccctgagggcat c.*240
. . . . . . g.38250
tagctggtctaactgcccggaggcacccggccctgggccttaggcacctcaaggactttt c.*300
. . . . . . g.38310
ctgctatttactgctcttattgttaaggataataattaaggatcatatgaataattaatg c.*360
. . . . g.38359
aagatgctgatgactatgaataataaataattatcctgaggagactcca c.*409
(downstream sequence)
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