Canonical Allele Identifier: CA383455684
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912322T>A , CM000674.2:g.4912322T>A GRCh38
NC_000012.11:g.5021488T>A , CM000674.1:g.5021488T>A GRCh37
NC_000012.10:g.4891749T>A NCBI36
NG_011815.1:g.7416T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.944T>A MANE Select ENSP00000371985.3:p.Leu315Gln
ENST00000543874.3:n.105+1850T>A
ENST00000639306.1:c.782T>A ENSP00000492506.1:p.Leu261Gln
ENST00000639680.1:c.76+56T>A
ENST00000382545.3:c.944T>A ENSP00000371985.3:p.Leu315Gln
ENST00000541095.1:n.105+1850T>A
ENST00000543874.2:n.96+1850T>A
NM_000217.2:c.944T>A NP_000208.2:p.Leu315Gln
NM_000217.3:c.944T>A MANE Select NP_000208.2:p.Leu315Gln