(used for variant description)
(last modified March 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_172362.2 in the KCNH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029777.1, covering KCNH1 transcript NM_172362.2.
(upstream sequence)
. . . . . g.5050
gaagagggcgcgagggtagcagccagagggagccgccagccctgcctgcg c.-121
. . . . . . g.5110
gatccccgccgggcgcatggggcgcttcgagccgggactgcgtgcgggccccgaggccag c.-61
. . . . . . g.5170
tttcctgctgtcgtaagaagccgcgccaggacgcccgccggaccccgagctgctgggagg c.-1
. . . . . . g.5230
ATGACCATGGCTGGGGGCAGGAGGGGACTAGTGGCCCCTCAAAACACGTTTCTGGAGAAT c.60
M T M A G G R R G L V A P Q N T F L E N p.20
. | 02 . . . . g.31779
ATTGTTCGGCGGTCCAATG | ATACTAATTTTGTGTTGGGGAATGCTCAGATAGTGGACTGG c.120
I V R R S N D | T N F V L G N A Q I V D W p.40
. . . . . . g.31839
CCTATTGTGTACAGCAATGATGGATTTTGCAAGCTGTCTGGCTATCACAGGGCAGAAGTG c.180
P I V Y S N D G F C K L S G Y H R A E V p.60
. . | 03 . . . . g.35550
ATGCAAAAAAGCAGCACCTGCAG | TTTTATGTATGGGGAGCTGACTGATAAAGACACGATT c.240
M Q K S S T C S | F M Y G E L T D K D T I p.80
. . . . . . g.35610
GAAAAAGTGCGGCAAACATTTGAGAACTATGAGATGAATTCCTTTGAAATTCTGATGTAC c.300
E K V R Q T F E N Y E M N S F E I L M Y p.100
. | 04 . . . . . g.48475
AAGAAGAACA | GGACACCTGTGTGGTTCTTTGTGAAAATTGCTCCAATTCGAAACGAACAG c.360
K K N R | T P V W F F V K I A P I R N E Q p.120
. . . . . . g.48535
GATAAAGTGGTTTTATTTCTTTGCACTTTCAGTGACATAACAGCTTTCAAACAGCCAATT c.420
D K V V L F L C T F S D I T A F K Q P I p.140
. | 05 . . . . g.56258
GAGGATGATTCATGTAAAG | GCTGGGGGAAGTTTGCTCGGCTGACAAGAGCACTGACAAGC c.480
E D D S C K G | W G K F A R L T R A L T S p.160
. . . . . . g.56318
AGCAGGGGTGTCCTGCAGCAGCTGGCTCCAAGCGTGCAAAAAGGCGAGAATGTCCACAAG c.540
S R G V L Q Q L A P S V Q K G E N V H K p.180
. | 06 . . . . g.119901
CACTCCCGCCTGGCAGAG | GTCCTACAGCTGGGCTCAGACATCCTTCCCCAGTACAAGCAA c.600
H S R L A E | V L Q L G S D I L P Q Y K Q p.200
. . . . . . g.119961
GAGGCACCAAAGACTCCCCCTCACATCATCTTACATTATTGTGTTTTTAAGACCACGTGG c.660
E A P K T P P H I I L H Y C V F K T T W p.220
. . . . . . g.120021
GATTGGATCATCTTGATCTTGACCTTCTATACAGCCATCTTGGTCCCTTATAATGTCTCC c.720
D W I I L I L T F Y T A I L V P Y N V S p.240
. . . . . . g.120081
TTCAAAACCAGGCAGAATAATGTGGCCTGGCTGGTTGTTGATAGCATCGTGGATGTTATC c.780
F K T R Q N N V A W L V V D S I V D V I p.260
. . . . . . g.120141
TTTTTGGTGGACATTGTGCTCAATTTTCATACCACCTTTGTTGGACCAGCAGGGGAGGTG c.840
F L V D I V L N F H T T F V G P A G E V p.280
. . . . . . g.120201
ATTTCTGACCCCAAACTTATCCGCATGAACTACCTGAAGACGTGGTTTGTGATTGACCTT c.900
I S D P K L I R M N Y L K T W F V I D L p.300
. . . . . . g.120261
CTGTCCTGTTTGCCATATGATGTCATCAACGCTTTTGAGAACGTGGATGAGGTTAGTGCC c.960
L S C L P Y D V I N A F E N V D E V S A p.320
. . . . . . g.120321
TTTATGGGTGATCCAGGGAAGATTGGTTTTGCTGATCAGATTCCACCACCACTGGAGGGG c.1020
F M G D P G K I G F A D Q I P P P L E G p.340
. | 07 . . . . . g.219094
AGAGAGAGTCAG | GGCATCAGCAGCCTGTTCAGCTCTCTAAAAGTTGTCCGGCTGCTCCGT c.1080
R E S Q | G I S S L F S S L K V V R L L R p.360
. . . . . . g.219154
CTTGGGCGAGTGGCCCGTAAGCTGGACCACTACATTGAATATGGAGCTGCTGTGCTGGTC c.1140
L G R V A R K L D H Y I E Y G A A V L V p.380
. . . . . . g.219214
CTGCTGGTGTGTGTGTTTGGGCTGGCTGCACACTGGATGGCCTGCATCTGGTACAGCATT c.1200
L L V C V F G L A A H W M A C I W Y S I p.400
. . . . . . g.219274
GGGGACTATGAGATCTTTGACGAGGACACCAAGACAATCCGCAACAACAGCTGGCTGTAC c.1260
G D Y E I F D E D T K T I R N N S W L Y p.420
. . . . . . g.219334
CAACTAGCGATGGACATTGGCACCCCTTACCAGTTTAATGGGTCTGGCTCAGGGAAGTGG c.1320
Q L A M D I G T P Y Q F N G S G S G K W p.440
. . . . . . g.219394
GAAGGTGGTCCCAGCAAGAATTCTGTCTACATCTCCTCGTTGTATTTCACAATGACCAGC c.1380
E G G P S K N S V Y I S S L Y F T M T S p.460
. . . . . . g.219454
CTCACCAGTGTGGGCTTTGGGAACATCGCCCCATCCACAGACATTGAGAAGATCTTTGCA c.1440
L T S V G F G N I A P S T D I E K I F A p.480
. . | 08 . . . . g.334987
GTGGCCATCATGATGATTGGCT | CACTTCTCTATGCCACCATCTTCGGGAATGTGACGACT c.1500
V A I M M I G S | L L Y A T I F G N V T T p.500
. . . . . . g.335047
ATTTTCCAACAGATGTATGCCAACACCAACAGATACCATGAGATGCTCAACAGTGTTCGG c.1560
I F Q Q M Y A N T N R Y H E M L N S V R p.520
. . . . . . g.335107
GACTTCCTGAAGCTCTACCAGGTGCCAAAAGGATTGAGTGAGCGAGTAATGGATTATATT c.1620
D F L K L Y Q V P K G L S E R V M D Y I p.540
. . . . | 09 . . g.341373
GTGTCCACTTGGTCCATGTCCAGAGGCATTGACACAGAGAAG | GTCCTGCAGATCTGCCCC c.1680
V S T W S M S R G I D T E K | V L Q I C P p.560
. . . . . . g.341433
AAGGACATGAGAGCCGACATCTGCGTGCACCTGAACCGCAAGGTGTTCAAGGAGCACCCG c.1740
K D M R A D I C V H L N R K V F K E H P p.580
. . . . . . g.341493
GCCTTCCGGCTGGCCAGTGATGGCTGCCTCCGGGCACTGGCCATGGAGTTCCAGACGGTG c.1800
A F R L A S D G C L R A L A M E F Q T V p.600
. . . . . . g.341553
CACTGTGCCCCAGGGGACCTCATCTACCATGCAGGAGAGAGCGTTGACAGCCTCTGCTTT c.1860
H C A P G D L I Y H A G E S V D S L C F p.620
. . . . . | 10 . g.363576
GTGGTTTCTGGCTCCCTGGAGGTGATCCAAGATGATGAGGTGGTGGCCATTCTAG | GAAAA c.1920
V V S G S L E V I Q D D E V V A I L G | K p.640
. . . . . . g.363636
GGAGACGTGTTTGGAGATGTGTTCTGGAAGGAAGCCACCCTTGCCCAGTCCTGTGCCAAT c.1980
G D V F G D V F W K E A T L A Q S C A N p.660
. . . . . . g.363696
GTTAGGGCCTTGACCTACTGTGATCTGCATGTGATCAAGCGGGATGCCCTGCAGAAAGTG c.2040
V R A L T Y C D L H V I K R D A L Q K V p.680
. . . . . . g.363756
CTGGAATTCTACACGGCCTTCTCCCATTCCTTCTCCCGGAACCTGATTCTGACGTACAAC c.2100
L E F Y T A F S H S F S R N L I L T Y N p.700
. | 11 . . . . . g.455025
TTGAGGAAGAGG | ATTGTGTTCCGGAAGATCAGCGATGTGAAACGTGAAGAGGAAGAACGC c.2160
L R K R | I V F R K I S D V K R E E E E R p.720
. . . . . . g.455085
ATGAAACGAAAGAATGAGGCCCCCCTGATCTTGCCCCCGGACCACCCTGTCCGGCGCCTC c.2220
M K R K N E A P L I L P P D H P V R R L p.740
. . . . . . g.455145
TTCCAGAGATTCCGACAGCAGAAAGAGGCCAGGCTGGCAGCTGAGAGAGGGGGCCGGGAC c.2280
F Q R F R Q Q K E A R L A A E R G G R D p.760
. . . . . . g.455205
CTGGATGACCTAGATGTGGAGAAGGGCAATGTCCTTACAGAGCATGCCTCCGCCAACCAC c.2340
L D D L D V E K G N V L T E H A S A N H p.780
. . . . . . g.455265
AGCCTCGTGAAGGCCAGCGTGGTCACCGTGCGTGAGAGTCCTGCCACGCCCGTATCCTTC c.2400
S L V K A S V V T V R E S P A T P V S F p.800
. . . . . . g.455325
CAGGCAGCCTCCACCTCCGGGGTGCCAGACCACGCAAAGCTACAGGCGCCAGGGTCCGAG c.2460
Q A A S T S G V P D H A K L Q A P G S E p.820
. . . . . . g.455385
TGCCTGGGCCCCAAGGGGGGCGGGGGCGATTGTGCCAAGCGCAAAAGCTGGGCCCGCTTC c.2520
C L G P K G G G G D C A K R K S W A R F p.840
. . . . . . g.455445
AAAGATGCTTGCGGGAAGAGTGAGGACTGGAACAAGGTGTCCAAGGCTGAGTCGATGGAG c.2580
K D A C G K S E D W N K V S K A E S M E p.860
. . . . . . g.455505
ACACTTCCCGAGAGGACAAAAGCGTCAGGCGAGGCCACACTGAAGAAGACAGACTCGTGT c.2640
T L P E R T K A S G E A T L K K T D S C p.880
. . . . . . g.455565
GACAGTGGCATCACCAAGAGCGACTTGCGCCTGGACAACGTGGGTGAGGCCAGGAGTCCC c.2700
D S G I T K S D L R L D N V G E A R S P p.900
. . . . . . g.455625
CAGGATCGGAGTCCCATCCTGGCAGAGGTCAAGCATTCGTTCTACCCCATCCCTGAGCAG c.2760
Q D R S P I L A E V K H S F Y P I P E Q p.920
. . . . . . g.455685
ACGCTGCAGGCCACAGTCCTGGAGGTGAGGCACGAGCTGAAGGAGGACATCAAGGCCTTA c.2820
T L Q A T V L E V R H E L K E D I K A L p.940
. . . . . . g.455745
AACGCCAAAATGACCAATATTGAGAAACAGCTCTCTGAGATACTCAGGATATTAACTTCC c.2880
N A K M T N I E K Q L S E I L R I L T S p.960
. . . . . . g.455805
AGAAGATCCTCTCAGTCTCCTCAGGAGTTGTTTGAAATATCGAGGCCACAGTCCCCAGAA c.2940
R R S S Q S P Q E L F E I S R P Q S P E p.980
. . . g.455835
TCAGAGAGAGACATTTTTGGAGCCAGCTGA c.2970
S E R D I F G A S X p.989
. . . . . . g.455895
gaggtctatttaaaaaaaaagtcagagacagatacctccaaccctgccgtcaccaccacc c.*60
. . . . . . g.455955
cctaccacatatgtccacatgaccaacaattttcaagtaggcttttcctaacagaaaaag c.*120
. . . . . . g.456015
tggggccagtggcttagacgtgctctttctctatctggaaaaagatatgggaagggtagc c.*180
. . . . . . g.456075
gtgcccctaccctgcaaggtggcagctgcatctgaaccgtctttgcacaattttggaaga c.*240
. . . . . . g.456135
agggacatgctgtctaaagggtattttccttcatttttaattttttactaccatgatatt c.*300
. . . . . . g.456195
tgtaaaagattaaaactaccagaacagagcagcagccatctggggactggtgggaaagtg c.*360
. . . . . . g.456255
ccgagaacctctcatgtatatactatgctgggctcctttgccaagaccccccatggactg c.*420
. . . . . . g.456315
cagtgggccaaggacttcccggcatccccgtccttgtacagcccgtgtctgacgtcacca c.*480
. . . . . . g.456375
tgttttcctgtagttgtcatttataactagctcgggacaagcagagcttgagggacagga c.*540
. . . . . . g.456435
gggtagagctcagaaactttctgtctcatggttaaggccagaaaagcagctgcaggtgtg c.*600
. . . . . . g.456495
gtgcatgcctcccatagacacttgaagctgggaatcctcaggtctccttccccaaaggag c.*660
. . . . . . g.456555
gtgaggcaagggtaagagctggagaggggcccttaagatccaggggttctctgcggtgca c.*720
. . . . . . g.456615
acccatagcctgctcctctgggacagttgacagggagggctctggagtgcctggctgagc c.*780
. . . . . . g.456675
ctctggccctgctccatgctgctggcctcacacacaggctcccttgcttctgttccttct c.*840
. . . . . . g.456735
tggcctcttcccaagtgtccccatggcattcctcagggtatggagcatcggcaggaaggg c.*900
. . . . . . g.456795
tcatgagcccagagttgctttattaacaaagcagacacacagacacacacaacctcagaa c.*960
. . . . . . g.456855
ctgtagcaagtgctatgtttatactttgattctcattgggattgccctgcagacctttgt c.*1020
. . . . . . g.456915
attttgttcaccgcacggggtcattataggcacttgggagccatgctgggccttatttta c.*1080
. . . . . . g.456975
aagccagtctctctatttcctattaaagtcagtaggatttcaagagaaaatggaaaaaga c.*1140
. . . . . . g.457035
ctgcaggatcatgattgtactctcttcaggagctggaaagagaatgaagcagtgagtttc c.*1200
. . . . . . g.457095
cagctctctgtaaggtgatggagagaagtggccttggagctgtggctcccagtgatggtc c.*1260
. . . . . . g.457155
acagaactgcgtatgggccatccaagcccctatgccacgatgctcggggacacttcactg c.*1320
. . . . . . g.457215
cctcatggtcacctaagtcaggttattcatgtgcttgggcttctctcaatggcatctgag c.*1380
. . . . . . g.457275
aaaggaaaggagtgaagtctcttccaggcacagtggagctggccggggcatatgccctag c.*1440
. . . . . . g.457335
agagaggtgtcaggaccccaaatactgacacgcaaggttagaagttcagctctgaaaagt c.*1500
. . . . . . g.457395
caacttggagggaatggaattaggagtacaggtgacagcatggacttatccagggagctt c.*1560
. . . . . . g.457455
acctttgcctgtgttagacggtgaccccattcctggtacctctgccctaccaaagatatt c.*1620
. . . . . . g.457515
cagtgtttctgagagcctccggtctgagactgcccaccaccccaccccaccccacctcct c.*1680
. . . . . . g.457575
tagtcctgcccagtgctcacggcgagtcccagggctgggccctcggttgtctgtgcaagg c.*1740
. . . . . . g.457635
cagggctgacctctcctggttcgcagggttggcacagatggccctgggaagacaaggcct c.*1800
. . . . . . g.457695
gcgagctcaagggagagtcctgctccatgagccctaacctcatatgtagcttctcacatc c.*1860
. . . . . . g.457755
aggcttacaggggctgcccctggcttctccaggttgcgacataattagatttagcctcag c.*1920
. . . . . . g.457815
atggcggcatacaagtaagaggaagtctaatttcctaaggccgagtcacaactatctgtg c.*1980
. . . . . . g.457875
actttgaataaagctgtgaggccttcagcctctttcacttgagaagctgccaaccagtcc c.*2040
. . . . . . g.457935
ttgggtaagaggccgtaaaatatctggaatcccatctgttggctgccccctaacattcta c.*2100
. . . . . . g.457995
gtctgccatttcttaaacatgctcctcaacctgcttctgaagtttaggacccaccacttt c.*2160
. . . . . . g.458055
taaggcagggcaggcctctaatcacccccaaaacccagcctcagaagaacctgccactgg c.*2220
. . . . . . g.458115
agacacttttttgcctctcagctctccagggacttgatgacaggcttcttgtctggcacc c.*2280
. . . . . . g.458175
caacggtcaatgtcaagaggccctgccatttccctccagctctgcctgagggagacggat c.*2340
. . . . . . g.458235
gtccgtgaaatttctcagacctctgggtatgaggggcaaagatggtataaggctttgaag c.*2400
. . . . . . g.458295
tccagacatgttcttggggggaatgtagctttaggaatgcactcgtgaatcagcgcaaac c.*2460
. . . . . . g.458355
tgggctcatgactggaagccagctcctgcggcaggaatctgttcatcttgggtcacaggt c.*2520
. . . . . . g.458415
gcacgtgtgggtgcatgggctttattctcctgtaatcctccctaggatttgagggatttt c.*2580
. . . . . . g.458475
ttgctgtaattgttttctttgaaaaaacattgtgtaaatgagccaaacctttctcccttc c.*2640
. . . . . . g.458535
cttttcgcaccatgaacttgaccgcaggctgctttgtgctgactgccttcccatgccagg c.*2700
. . . . . . g.458595
atgccactctgggttcccgagccaggaccatgtgcctcagataccagtgacctgagcctt c.*2760
. . . . . . g.458655
ccagtataaaccattatctggtggctggagagagattagggaaacaaaaagttactaggt c.*2820
. . . . . . g.458715
atgggacagaacatttagacttcagaaaaagtatgccaagagagaacagatttgcccagg c.*2880
. . . . . . g.458775
atgtatgtttttcctctttgaggagtcggggcatgatatgtggcaccattatctagtaag c.*2940
. . . . . . g.458835
tgctggttatttgatttctactaaattctttactttgaatgtcattcatattgaagctcc c.*3000
. . . . . . g.458895
atttcccagagaatatcctgacaggctgctttgaagagggtaggtcctgtccctgtcact c.*3060
. . . . . . g.458955
tggctgctggttgaacgtgctcctcccggctgatggaggggtgggtttaaggttaactct c.*3120
. . . . . . g.459015
aagaactaagatggtcaatgaggtggtgtttgttcttggtgggggggcattgactccagc c.*3180
. . . . . . g.459075
aatgggcgctgccatcccatatacttacaaagggctcctccactggacatgacaagatag c.*3240
. . . . . . g.459135
ccaaaggacggaaacagagacgaccatttggttgagaaaccaaattgtctagtgtacaat c.*3300
. . . . . . g.459195
taatgcaactcattgcattcatgaatgcaactcattgcattaatgcaatgctacattatg c.*3360
. . . . . . g.459255
ctaataaggttacaacattaatgctacaggatagcccaagtatttaaaaagctgagccca c.*3420
. . . . . . g.459315
tttagcagccttccagcaaacttttggaaatgcatttcttacttgatttcttcttgttat c.*3480
. . . . . . g.459375
ccaatccctggggactgttttacccacaacctcttcgatccagtgtgctgctgttggcca c.*3540
. . . . . . g.459435
aacatcagcccctttcctggaatcctcctctttcaaaagtggggagggctgggcaggggt c.*3600
. . . . . . g.459495
aaaaatgtactataccaccccatcccattcagcaagcttcctctccaaatccttaaatgg c.*3660
. . . . . . g.459555
aaggtagaagtattatgccaactgtcaagctctttgtccaggcccttgtggggactaaat c.*3720
. . . . . . g.459615
gaactctttaggaatactaggtataggaagactaggtataggaagattctcatttcccct c.*3780
. . . . . . g.459675
tgttgcactgaccactatgtctcccatgcatactctgggaaattttaggagccctggtgg c.*3840
. . . . . . g.459735
agatacacgttgctgatgtgcatttgattaataggttttactatgtcttgcaataaagac c.*3900
. . . . . . g.459795
gtttagccttaagacccttgaatggaactccagctgtgatagagctgccaatgccccttc c.*3960
. . . . . . g.459855
ctctctcctcccttatcacctagtgttgcttaaagaggaggccattgagggcacacttga c.*4020
. . . . . . g.459915
tgccccagacagcctccctctgttgctaaatcattgttattgctctatatactgccttct c.*4080
. . . . . . g.459975
cactcgcttcaattaaaaattaccttcaccagctcctgtgccctccacctgggggagact c.*4140
. . . . . . g.460035
tcatgatcctctcagcactgactgcaaacatcagagaaaaaaacattttctcaccaaagg c.*4200
. . . . . . g.460095
tgttcatgttgagaagttttaatttctaccccctacagctcaaaagaatcaatgtgaatt c.*4260
. . . . . . g.460155
tatctgcagcttaaattcaagtgaaacttcattctcatgcaagcatatcagacttattct c.*4320
. . . . . . g.460215
ggaacctctagaactggacttgaattccctgcaggtgccagactggtgggtgccctccct c.*4380
. . . . . . g.460275
gcctgccattaaacttttcttacagccactgtccctttatctgtgacttctgagtcatcc c.*4440
. . . . . . g.460335
gacggatccattagttgttcaatgagaagttcacagatcttgtatcaggatataaactga c.*4500
. . . . . . g.460395
tcttatgttgaaggatgcaccctcccctaatgaatgtattctcttaatattccgatgctg c.*4560
. . . . . . g.460455
tatttgtgcatcagttggagactgtccacatccgacatttcaccgacacctcaaggacac c.*4620
. . . . . . g.460515
ttctacttatgagcagttcatcattctggggcttctccttatattaatactctttccatt c.*4680
. . . . . . g.460575
gagtcctgccaaatcctttattgggttttctttttcctttgcatctgtcactttgtccaa c.*4740
. . . . . . g.460635
atgagcatgaataaacaaaagtgtaaatgagctgatactatttttgtggtcagctgagga c.*4800
. . . . . . g.460695
tgctgccaagaacaccactgtatatctgtggcttgggaatgttaagaggaacgtgcaggc c.*4860
. . . . . . g.460755
ccttccattgatgatattcccttctcaacatttttaaacaagcacaaatgatatttgtaa c.*4920
. . . . g.460801
aaaaaaaaagttttatttattatggtaataaactattttatacatg c.*4966
(downstream sequence)
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