Canonical Allele Identifier: CA6399474
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1553306
ClinVar RCV Id: RCV002199357
dbSNP Id: rs761868527
ExAC: 12:5021736 C / T
gnomAD v2: 12-5021736-C-T
gnomAD v4: 12-4912570-C-T
MyVariant Identifiers: chr12:g.5021736C>T (hg19) chr12:g.4912570C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912570C>T , CM000674.2:g.4912570C>T GRCh38
NC_000012.11:g.5021736C>T , CM000674.1:g.5021736C>T GRCh37
NC_000012.10:g.4891997C>T NCBI36
NG_011815.1:g.7664C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1192C>T MANE Select ENSP00000371985.3:p.Leu398=
ENST00000543874.3:n.105+2098C>T
ENST00000639306.1:c.1030C>T ENSP00000492506.1:p.Leu344=
ENST00000639680.1:c.76+304C>T
ENST00000382545.3:c.1192C>T ENSP00000371985.3:p.Leu398=
ENST00000541095.1:n.105+2098C>T
ENST00000543874.2:n.96+2098C>T
NM_000217.2:c.1192C>T NP_000208.2:p.Leu398=
NM_000217.3:c.1192C>T MANE Select NP_000208.2:p.Leu398=
Search 100 bp 5'
Search 100 bp 3'