(used for variant description)
(last modified January 5, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_004977.2 in the KCNC3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering KCNC3 transcript NM_004977.2.
(upstream sequence)
. . . . . g.5055
accggtcccgcctcccttgacgccccgccccgcccctcctccctgctctcttaga c.-241
. . . . . . g.5115
aagagccaatcgctccgtctcattggcggccccgactcgtccagctgggtcgcgttagag c.-181
. . . . . . g.5175
tgcccgccccactcctcccagccacagccccgccccacctcccccaggccaatcagtttg c.-121
. . . . . . g.5235
gttcctctcccctaagccacgcccccgctacctcgctcctcctcccacccaatcccgtcg c.-61
. . . . . . g.5295
gtctctccccccgtgtccccgcccctgcgtccccgcccctcccgccccgccccccgtcca c.-1
. . . . . . g.5355
ATGCTGAGCTCAGTCTGCGTCTCGTCCTTCCGCGGGCGCCAGGGGGCCAGCAAGCAGCAG c.60
M L S S V C V S S F R G R Q G A S K Q Q p.20
. . . . . . g.5415
CCGGCGCCACCGCCGCAGCCGCCCGAGTCCCCGCCGCCGCCACCGCTGCCGCCGCAGCAG c.120
P A P P P Q P P E S P P P P P L P P Q Q p.40
. . . . . . g.5475
CAGCAGCCTGCGCAGCCCGGCCCCGCCGCGTCCCCGGCGGGCCCCCCGGCACCCCGCGGG c.180
Q Q P A Q P G P A A S P A G P P A P R G p.60
. . . . . . g.5535
CCCGGGGACCGGCGCGCCGAGCCATGCCCCGGGCTGCCGGCGGCGGCCATGGGGCGGCAC c.240
P G D R R A E P C P G L P A A A M G R H p.80
. . . . . . g.5595
GGCGGCGGCGGTGGCGACAGCGGCAAGATCGTGATCAACGTGGGCGGCGTGCGCCATGAG c.300
G G G G G D S G K I V I N V G G V R H E p.100
. . . . . . g.5655
ACGTACCGCTCGACGCTGCGCACCCTGCCGGGGACGCGGCTGGCCGGCCTGACGGAGCCC c.360
T Y R S T L R T L P G T R L A G L T E P p.120
. . . . . . g.5715
GAGGCGGCGGCACGCTTCGACTACGACCCGGGCGCCGACGAGTTCTTCTTTGACCGGCAC c.420
E A A A R F D Y D P G A D E F F F D R H p.140
. . . . . . g.5775
CCGGGAGTCTTCGCGTACGTGCTCAACTACTACCGCACCGGCAAGCTGCACTGCCCAGCC c.480
P G V F A Y V L N Y Y R T G K L H C P A p.160
. . . . . . g.5835
GACGTGTGCGGGCCCCTGTTTGAGGAGGAGCTCGGCTTCTGGGGCATCGACGAGACCGAC c.540
D V C G P L F E E E L G F W G I D E T D p.180
. . . . . . g.5895
GTGGAGGCCTGCTGCTGGATGACCTACCGGCAGCATCGCGACGCTGAGGAGGCGCTCGAC c.600
V E A C C W M T Y R Q H R D A E E A L D p.200
. . . . . . g.5955
TCCTTCGAGGCGCCCGACCCCGCGGGCGCCGCCAACGCCGCCAACGCCGCAGGCGCCCAC c.660
S F E A P D P A G A A N A A N A A G A H p.220
. . . . . . g.6015
GACGGAGGCCTGGACGACGAGGCGGGCGCGGGCGGCGGCGGCCTGGACGGAGCGGGCGGC c.720
D G G L D D E A G A G G G G L D G A G G p.240
. . . . . . g.6075
GAGCTCAAGCGCCTCTGCTTCCAGGACGCGGGCGGCGGCGCCGGGGGGCCGCCAGGGGGC c.780
E L K R L C F Q D A G G G A G G P P G G p.260
. . . . . . g.6135
GCGGGCGGCGCGGGCGGCACATGGTGGCGCCGCTGGCAGCCCCGCGTGTGGGCGCTCTTC c.840
A G G A G G T W W R R W Q P R V W A L F p.280
. . . | 02 . . . g.10325
GAGGACCCCTACTCGTCGCGGGCTGCCAGG | TATGTGGCCTTCGCCTCCCTCTTCTTCATC c.900
E D P Y S S R A A R | Y V A F A S L F F I p.300
. . . . . . g.10385
CTCATCTCCATCACCACCTTCTGCCTGGAAACCCATGAGGGCTTCATCCATATTAGCAAC c.960
L I S I T T F C L E T H E G F I H I S N p.320
. . . . . . g.10445
AAGACGGTGACCCAGGCCTCCCCGATCCCCGGGGCACCTCCGGAGAACATCACCAACGTG c.1020
K T V T Q A S P I P G A P P E N I T N V p.340
. . . . . . g.10505
GAGGTGGAGACGGAGCCCTTCCTGACCTACGTGGAGGGGGTGTGCGTGGTCTGGTTCACC c.1080
E V E T E P F L T Y V E G V C V V W F T p.360
. . . . . . g.10565
TTCGAGTTCCTCATGCGCATCACCTTCTGCCCAGACAAGGTGGAGTTTCTTAAAAGCAGC c.1140
F E F L M R I T F C P D K V E F L K S S p.380
. . . . . . g.10625
CTCAACATCATCGACTGTGTGGCCATCCTGCCCTTCTATCTCGAGGTGGGCCTCTCGGGC c.1200
L N I I D C V A I L P F Y L E V G L S G p.400
. . . . . . g.10685
CTCAGCTCCAAGGCCGCCAAAGACGTGCTGGGCTTCCTGCGGGTGGTCCGCTTCGTCCGC c.1260
L S S K A A K D V L G F L R V V R F V R p.420
. . . . . . g.10745
ATCCTGCGCATCTTCAAGCTGACCCGGCACTTCGTGGGGCTGCGCGTGCTGGGACACACG c.1320
I L R I F K L T R H F V G L R V L G H T p.440
. . . . . . g.10805
CTCCGCGCCAGCACCAACGAGTTCCTGCTGCTCATCATCTTCCTGGCCCTGGGGGTGCTC c.1380
L R A S T N E F L L L I I F L A L G V L p.460
. . . . . . g.10865
ATCTTCGCCACCATGATTTACTACGCTGAGCGCATTGGCGCCGACCCCGATGACATCCTG c.1440
I F A T M I Y Y A E R I G A D P D D I L p.480
. . . . . . g.10925
GGCTCCAACCACACCTACTTCAAGAACATCCCCATTGGCTTCTGGTGGGCTGTGGTCACC c.1500
G S N H T Y F K N I P I G F W W A V V T p.500
. . . . . . g.10985
ATGACGACCCTGGGCTATGGAGACATGTACCCCAAGACGTGGTCGGGGATGCTGGTCGGG c.1560
M T T L G Y G D M Y P K T W S G M L V G p.520
. . . . . . g.11045
GCGCTGTGTGCCCTGGCGGGGGTGCTGACCATCGCCATGCCTGTGCCCGTCATTGTCAAC c.1620
A L C A L A G V L T I A M P V P V I V N p.540
. . . . . . g.11105
AACTTTGGCATGTACTATTCGCTGGCCATGGCCAAGCAGAAGCTGCCCAAGAAGAAGAAC c.1680
N F G M Y Y S L A M A K Q K L P K K K N p.560
. . . . . . g.11165
AAACACATCCCCCGGCCCCCGCAACCGGGCTCGCCCAACTACTGCAAGCCTGACCCACCC c.1740
K H I P R P P Q P G S P N Y C K P D P P p.580
. . . . . . g.11225
CCGCCACCCCCGCCCCACCCGCACCACGGCAGCGGGGGCATCAGCCCGCCGCCACCCATC c.1800
P P P P P H P H H G S G G I S P P P P I p.600
. . . . . . g.11285
ACCCCACCCTCCATGGGGGTGACTGTGGCCGGGGCCTACCCAGCGGGGCCCCACACGCAC c.1860
T P P S M G V T V A G A Y P A G P H T H p.620
. . . . . . g.11345
CCCGGGCTGCTCAGGGGGGGAGCGGGTGGGCTGGGGATCATGGGGCTGCCTCCTCTGCCA c.1920
P G L L R G G A G G L G I M G L P P L P p.640
. . . . . | 03 g.13595
GCCCCCGGCGAGCCTTGCCCGTTGGCTCAGGAGGAGGTGATTGAGATCAACCGGGCAG | AT c.1980
A P G E P C P L A Q E E V I E I N R A D | p.660
. . . . . . g.13655
CCTCGCCCCAATGGGGATCCGGCAGCAGCTGCGCTTGCCCACGAGGACTGCCCAGCCATT c.2040
P R P N G D P A A A A L A H E D C P A I p.680
. . . . . . g.13715
GACCAGCCTGCCATGTCCCCGGAAGACAAGAGCCCCATCACGCCTGGAAGCCGTGGCCGC c.2100
D Q P A M S P E D K S P I T P G S R G R p.700
. . . . . . g.13775
TATAGCCGGGACCGAGCCTGCTTCCTCCTCACCGACTATGCCCCTTCCCCTGATGGCTCC c.2160
Y S R D R A C F L L T D Y A P S P D G S p.720
. | 04 . . . . . g.14078
ATCCGAAAAG | CCACTGGTGCTCCCCCACTGCCCCCCCAAGACTGGCGTAAGCCAGGCCCC c.2220
I R K A | T G A P P L P P Q D W R K P G P p.740
. . . . . g.14132
CCAAGCTTCTTGCCCGACCTCAACGCCAACGCCGCGGCCTGGATATCCCCCTAG c.2274
P S F L P D L N A N A A A W I S P X p.757
. . | 05 . . . . g.18323
tggacgaaccccctccccccggg | ctcttgtcaccgcctgagacctcgcgagactttcggt c.*60
. . . . . . g.18383
cccccccgccccttccccccaggttagcaattgggaatggctgggagggggtgtccccaa c.*120
. . . . . . g.18443
gacactgggcttcaaatctccccccaagccctccctcctacgatcaagacaccttttgtc c.*180
. . . . . . g.18503
cagacagctcccttagcgttgcctggaaaagccacagagctccctgcgggggtgcagaac c.*240
. . . . . . g.18563
cctgcaggcagccccaggctttgcagaaaccacacacactgttgctggatcttgagtccc c.*300
. . . . . . g.18623
attagctgtgagatgcctgtgagagccttcccgcacccgtcagaagctcagagccttctt c.*360
. . . . . . g.18683
ggaccctttaaagatgtccctctccccagccctccgcctcaccgccccccacccccgacc c.*420
. . . . . . g.18743
ccgtccttagaatcttctggaggagcctccctccccccccacccccccccactgctcctg c.*480
. . . . . . g.18803
gagttctcatcggattccccaagggcactgccagcttcgctccactcagcccccttgcag c.*540
. . . . . . g.18863
accccaccccctgcctgctctctttccctacaactaggtcagcccccagccccgctacgg c.*600
g.18870
cggccgc c.*607
(downstream sequence)
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