Canonical Allele Identifier: CA383456417
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs1947359224

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912651G>A , CM000674.2:g.4912651G>A GRCh38
NC_000012.11:g.5021817G>A , CM000674.1:g.5021817G>A GRCh37
NC_000012.10:g.4892078G>A NCBI36
NG_011815.1:g.7745G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1273G>A MANE Select ENSP00000371985.3:p.Ala425Thr
ENST00000543874.3:n.105+2179G>A
ENST00000639306.1:c.1111G>A ENSP00000492506.1:p.Ala371Thr
ENST00000639680.1:c.76+385G>A
ENST00000382545.3:c.1273G>A ENSP00000371985.3:p.Ala425Thr
ENST00000541095.1:n.105+2179G>A
ENST00000543874.2:n.96+2179G>A
NM_000217.2:c.1273G>A NP_000208.2:p.Ala425Thr
NM_000217.3:c.1273G>A MANE Select NP_000208.2:p.Ala425Thr