Canonical Allele Identifier: CA383456372

Gene: KCNA1

Linked Data

• MyVariant Identifiers: chr12:g.5021797A>T (hg19) ; chr12:g.4912631A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912631A>T , CM000674.2:g.4912631A>T	GRCh38
NC_000012.11:g.5021797A>T , CM000674.1:g.5021797A>T	GRCh37
NC_000012.10:g.4892058A>T	NCBI36
NG_011815.1:g.7725A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382545.5:c.1253A>T MANE Select	ENSP00000371985.3:p.Glu418Val
ENST00000543874.3:n.105+2159A>T
ENST00000639306.1:c.1091A>T	ENSP00000492506.1:p.Glu364Val
ENST00000639680.1:c.76+365A>T
ENST00000382545.3:c.1253A>T	ENSP00000371985.3:p.Glu418Val
ENST00000541095.1:n.105+2159A>T
ENST00000543874.2:n.96+2159A>T
NM_000217.2:c.1253A>T	NP_000208.2:p.Glu418Val
NM_000217.3:c.1253A>T MANE Select	NP_000208.2:p.Glu418Val