Canonical Allele Identifier: CA383455562

Gene: KCNA1

Linked Data

• MyVariant Identifiers: chr12:g.5021433G>A (hg19) ; chr12:g.4912267G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912267G>A , CM000674.2:g.4912267G>A	GRCh38
NC_000012.11:g.5021433G>A , CM000674.1:g.5021433G>A	GRCh37
NC_000012.10:g.4891694G>A	NCBI36
NG_011815.1:g.7361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.889G>A MANE Select	ENSP00000371985.3:p.Val297Ile
ENST00000543874.3:n.105+1795G>A
ENST00000639306.1:c.727G>A	ENSP00000492506.1:p.Val243Ile
ENST00000639680.1:c.76+1G>A
ENST00000382545.3:c.889G>A	ENSP00000371985.3:p.Val297Ile
ENST00000541095.1:n.105+1795G>A
ENST00000543874.2:n.96+1795G>A
NM_000217.2:c.889G>A	NP_000208.2:p.Val297Ile
NM_000217.3:c.889G>A MANE Select	NP_000208.2:p.Val297Ile