Canonical Allele Identifier: CA383456280

Gene: KCNA1

Linked Data

• MyVariant Identifiers: chr12:g.5021755T>A (hg19) ; chr12:g.4912589T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912589T>A , CM000674.2:g.4912589T>A	GRCh38
NC_000012.11:g.5021755T>A , CM000674.1:g.5021755T>A	GRCh37
NC_000012.10:g.4892016T>A	NCBI36
NG_011815.1:g.7683T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1211T>A MANE Select	ENSP00000371985.3:p.Val404Glu
ENST00000543874.3:n.105+2117T>A
ENST00000639306.1:c.1049T>A	ENSP00000492506.1:p.Val350Glu
ENST00000639680.1:c.76+323T>A
ENST00000382545.3:c.1211T>A	ENSP00000371985.3:p.Val404Glu
ENST00000541095.1:n.105+2117T>A
ENST00000543874.2:n.96+2117T>A
NM_000217.2:c.1211T>A	NP_000208.2:p.Val404Glu
NM_000217.3:c.1211T>A MANE Select	NP_000208.2:p.Val404Glu