Canonical Allele Identifier: CA256876
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 13482
dbSNP Id: rs104894349

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911898G>T , CM000674.2:g.4911898G>T GRCh38
NC_000012.11:g.5021064G>T , CM000674.1:g.5021064G>T GRCh37
NC_000012.10:g.4891325G>T NCBI36
NG_011815.1:g.6992G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.520G>T MANE Select ENSP00000371985.3:p.Val174Phe
ENST00000543874.3:n.105+1426G>T
ENST00000639306.1:c.358G>T ENSP00000492506.1:p.Val120Phe
ENST00000382545.3:c.520G>T ENSP00000371985.3:p.Val174Phe
ENST00000541095.1:n.105+1426G>T
ENST00000543874.2:n.96+1426G>T
NM_000217.2:c.520G>T NP_000208.2:p.Val174Phe
NM_000217.3:c.520G>T MANE Select NP_000208.2:p.Val174Phe