Canonical Allele Identifier: CA231856202

Gene: KCNA1

Linked Data

• dbSNP Id: rs963842830
• MyVariant Identifiers: chr12:g.5021756A>G (hg19) ; chr12:g.4912590A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912590A>G , CM000674.2:g.4912590A>G	GRCh38
NC_000012.11:g.5021756A>G , CM000674.1:g.5021756A>G	GRCh37
NC_000012.10:g.4892017A>G	NCBI36
NG_011815.1:g.7684A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382545.5:c.1212A>G MANE Select	ENSP00000371985.3:p.Val404=
ENST00000543874.3:n.105+2118A>G
ENST00000639306.1:c.1050A>G	ENSP00000492506.1:p.Val350=
ENST00000639680.1:c.76+324A>G
ENST00000382545.3:c.1212A>G	ENSP00000371985.3:p.Val404=
ENST00000541095.1:n.105+2118A>G
ENST00000543874.2:n.96+2118A>G
NM_000217.2:c.1212A>G	NP_000208.2:p.Val404=
NM_000217.3:c.1212A>G MANE Select	NP_000208.2:p.Val404=