Canonical Allele Identifier: CA383455279
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs1224911562
gnomAD v2: 12-5021306-G-A
gnomAD v4: 12-4912140-G-A
COSMIC: COSM5591442
MyVariant Identifiers: chr12:g.5021306G>A (hg19) chr12:g.4912140G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912140G>A , CM000674.2:g.4912140G>A GRCh38
NC_000012.11:g.5021306G>A , CM000674.1:g.5021306G>A GRCh37
NC_000012.10:g.4891567G>A NCBI36
NG_011815.1:g.7234G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.762G>A MANE Select ENSP00000371985.3:p.Met254Ile
ENST00000543874.3:n.105+1668G>A
ENST00000639306.1:c.600G>A ENSP00000492506.1:p.Met200Ile
ENST00000382545.3:c.762G>A ENSP00000371985.3:p.Met254Ile
ENST00000541095.1:n.105+1668G>A
ENST00000543874.2:n.96+1668G>A
NM_000217.2:c.762G>A NP_000208.2:p.Met254Ile
NM_000217.3:c.762G>A MANE Select NP_000208.2:p.Met254Ile
Search 100 bp 5'
Search 100 bp 3'