(used for variant description)
(last modified September 29, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001112741.1 in the KCNC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_041827.1, covering KCNC1 transcript NM_001112741.1.
(upstream sequence)
. . . . . g.5055
ggcggccgctcccatgggtgtcgctgggccgcgccatgcctaagggggcgccgcg c.-1
. . . . . . g.5115
ATGGGCCAAGGGGACGAGAGCGAGCGCATCGTGATCAACGTGGGCGGCACGCGCCACCAG c.60
M G Q G D E S E R I V I N V G G T R H Q p.20
. . . . . . g.5175
ACGTACCGCTCGACCCTGCGCACGCTGCCCGGCACGCGGCTCGCCTGGCTGGCGGAGCCC c.120
T Y R S T L R T L P G T R L A W L A E P p.40
. . . . . . g.5235
GACGCCCACAGCCACTTCGACTATGACCCGCGTGCTGACGAGTTCTTCTTCGACCGCCAC c.180
D A H S H F D Y D P R A D E F F F D R H p.60
. . . . . . g.5295
CCCGGCGTCTTCGCGCACATCCTGAACTACTACCGCACGGGCAAGCTGCACTGCCCAGCC c.240
P G V F A H I L N Y Y R T G K L H C P A p.80
. . . . . . g.5355
GACGTGTGCGGGCCGCTCTACGAGGAGGAGCTGGCCTTCTGGGGCATCGACGAGACCGAC c.300
D V C G P L Y E E E L A F W G I D E T D p.100
. . . . . . g.5415
GTGGAGCCCTGCTGCTGGATGACGTACCGCCAGCACCGCGACGCCGAGGAGGCTCTGGAC c.360
V E P C C W M T Y R Q H R D A E E A L D p.120
. . . . . . g.5475
AGCTTCGGCGGCGCTCCTCTGGACAACAGCGCCGACGACGCGGACGCCGACGGCCCTGGC c.420
S F G G A P L D N S A D D A D A D G P G p.140
. . . . . . g.5535
GACTCGGGCGACGGCGAGGACGAGCTGGAGATGACCAAGCGCCTGGCGCTCAGTGACTCC c.480
D S G D G E D E L E M T K R L A L S D S p.160
. . . . . . g.5595
CCGGATGGCCGGCCTGGCGGCTTTTGGCGCCGCTGGCAGCCGCGCATCTGGGCGCTCTTC c.540
P D G R P G G F W R R W Q P R I W A L F p.180
. . . | 02 . . . g.40747
GAGGACCCGTACTCGTCCCGCTACGCGCGG | TATGTGGCCTTCGCTTCCCTCTTCTTCATC c.600
E D P Y S S R Y A R | Y V A F A S L F F I p.200
. . . . . . g.40807
CTGGTCTCCATCACCACCTTCTGCCTGGAGACCCACGAGCGCTTCAACCCCATCGTGAAC c.660
L V S I T T F C L E T H E R F N P I V N p.220
. . . . . . g.40867
AAGACGGAGATCGAGAACGTTCGCAATGGCACGCAAGTGCGCTACTACCGGGAGGCCGAG c.720
K T E I E N V R N G T Q V R Y Y R E A E p.240
. . . . . . g.40927
ACGGAGGCCTTCCTTACCTACATCGAGGGCGTCTGTGTGGTCTGGTTCACCTTCGAGTTC c.780
T E A F L T Y I E G V C V V W F T F E F p.260
. . . . . . g.40987
CTCATGCGTGTCATCTTCTGCCCCAACAAGGTAGAGTTCATCAAGAACTCGCTCAACATC c.840
L M R V I F C P N K V E F I K N S L N I p.280
. . . . . . g.41047
ATTGACTTTGTGGCCATCCTGCCCTTCTACCTGGAGGTGGGGCTGAGCGGCCTGTCCTCC c.900
I D F V A I L P F Y L E V G L S G L S S p.300
. . . . . . g.41107
AAGGCAGCCAAGGACGTGCTGGGCTTCCTGCGCGTCGTCCGCTTCGTGCGCATCTTGCGC c.960
K A A K D V L G F L R V V R F V R I L R p.320
. . . . . . g.41167
ATCTTTAAGCTGACCCGCCACTTTGTGGGCCTGCGGGTCCTGGGCCACACGCTCCGAGCC c.1020
I F K L T R H F V G L R V L G H T L R A p.340
. . . . . . g.41227
AGCACCAACGAGTTCCTGCTGCTCATCATCTTCCTGGCCTTGGGCGTGCTGATCTTCGCC c.1080
S T N E F L L L I I F L A L G V L I F A p.360
. . . . . . g.41287
ACCATGATCTACTACGCCGAGAGGATAGGGGCACAGCCCAATGACCCCAGCGCCAGTGAG c.1140
T M I Y Y A E R I G A Q P N D P S A S E p.380
. . . . . . g.41347
CACACGCACTTTAAGAACATCCCCATCGGCTTCTGGTGGGCCGTGGTCACCATGACGACC c.1200
H T H F K N I P I G F W W A V V T M T T p.400
. . . . . . g.41407
CTGGGCTATGGAGACATGTACCCGCAGACGTGGTCCGGCATGCTGGTGGGGGCTCTGTGT c.1260
L G Y G D M Y P Q T W S G M L V G A L C p.420
. . . . . . g.41467
GCGCTGGCGGGCGTGCTCACCATCGCCATGCCCGTGCCCGTCATCGTGAACAATTTCGGG c.1320
A L A G V L T I A M P V P V I V N N F G p.440
. . . . . . g.41527
ATGTATTACTCCTTAGCCATGGCTAAGCAGAAACTACCAAAGAAAAAAAAGAAGCATATT c.1380
M Y Y S L A M A K Q K L P K K K K K H I p.460
. . . . . . g.41587
CCGCGGCCACCGCAGCTGGGATCTCCCAATTATTGTAAATCTGTCGTAAACTCTCCACAC c.1440
P R P P Q L G S P N Y C K S V V N S P H p.480
. . . . . . g.41647
CACAGTACTCAGAGTGACACATGTCCGCTGGCCCAGGAAGAAATTTTAGAAATTAACAGA c.1500
H S T Q S D T C P L A Q E E I L E I N R p.500
| 03 . . . . . . g.48564
GCAG | ATTCCAAACTGAATGGGGAGGTGGCGAAGGCCGCGCTGGCGAACGAAGACTGCCCC c.1560
A D | S K L N G E V A K A A L A N E D C P p.520
. . . . . . g.48624
CACATAGACCAGGCCCTCACTCCCGATGAGGGCCTGCCCTTTACGCGCTCGGGCACCCGC c.1620
H I D Q A L T P D E G L P F T R S G T R p.540
. . . . . . g.48684
GAGAGATACGGACCCTGCTTCCTCTTATCAACCGGGGAGTACGCGTGCCCACCTGGTGGA c.1680
E R Y G P C F L L S T G E Y A C P P G G p.560
. | 04 . . . . . g.50769
GGAATGAGAAAGG | ATCTTTGCAAAGAAAGCCCTGTCATTGCTAAGTATATGCCGACAGAG c.1740
G M R K D | L C K E S P V I A K Y M P T E p.580
. g.50787
GCTGTGAGAGTGACTTGA c.1758
A V R V T X p.585
. . . . . . g.50847
ccaggcggcttggccgaggacactggtggctattaagcatctgggtggacctgcagcccc c.*60
. . . . . . g.50907
tcctcaccctcggacagagtaaattcacgccatgcaggtttgccggacgagtccgagtgg c.*120
. . . . . . g.50967
cccaggcattgtactaggacggacgtagctttttctacggccaaatggtaactgaccgta c.*180
. . . . . . g.51027
gaggatttcttttccttcttttcattttttaaaattttattttatttggggagggggggt c.*240
. . . . . . g.51087
ggaggggctccttagcatgacttgcatgaagttaaacagaaaacccagcaaaccaaaccc c.*300
. . . . . . g.51147
accaaccccctgcaactgtatgattaccctgaacaacaataatgaaaagaaaaacatcaa c.*360
. . . . . . g.51207
agccctctattttctttcaaagctcttgactttcacacacgttgttggagccaaactgta c.*420
. . . . . . g.51267
acggcgttcagtagaaacctgtacatttctgggggtgaggggcgaggggaggagggacag c.*480
. . . . . . g.51327
agatggggaatggattgcttcctttttgtacacaagatcaagaggaaagcttccaaaaag c.*540
. . . . . . g.51387
ggcagtcggtcagtcatcggtcatattgacctcaccttcatagttcatctctcacgtgga c.*600
. . . . . . g.51447
aactgagaactttgctccaaatagaattgtggaaactcgcacggctgccttcttccccgt c.*660
. . . . . . g.51507
ttggcatgcttgtgacccagcggatgtctccccaagacccctgacagcagctagtctagg c.*720
. . . . . . g.51567
ttgattctctcatcttatcggtgtgtagatccagtgtgaccaactttcataacaaattgt c.*780
. . . . . . g.51627
tcatagtaaataatcaccaccgtatggattttccaagtgttccattaaaaccaggatgta c.*840
. . . . . . g.51687
gagcaccaaaagatcaggaccacgggaggagcagcctcctccacctttactaaggcacaa c.*900
. . . . . . g.51747
cctggcattgtatgcaatttagtacttcagagtaaaaacctgcatgcccaatgttatgca c.*960
. . . . . . g.51807
aagcgattctagcatgaaataaattttgtatcatggtttctgtatagtctaaagcagatt c.*1020
. . . . . . g.51867
tgttttcctgaagcagtcggaggtttgcagagacacacttctgcatctcgaataaatata c.*1080
. . . . . . g.51927
gtattttcccaacagaaacagaggacagtagcttggctttggtctgattctaaaattagt c.*1140
. . . . . . g.51987
ggggtgggggggaaggatgatatttttgaaaaacacatgcttgagttgaaaaaaatgcaa c.*1200
. . . . . . g.52047
catctcaagctttcactgcagctcacaacatttcctggaaagagagcaatgatgctttag c.*1260
. . . . . . g.52107
ctcaacaacctcccctccctgggccctggcccccaataataaaaaactgacttttgagat c.*1320
g.52108
g c.*1321
(downstream sequence)
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