Canonical Allele Identifier: CA383456140

Gene: KCNA1

Linked Data

• gnomAD v4: 12-4912520-T-G
• MyVariant Identifiers: chr12:g.5021686T>G (hg19) ; chr12:g.4912520T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912520T>G , CM000674.2:g.4912520T>G	GRCh38
NC_000012.11:g.5021686T>G , CM000674.1:g.5021686T>G	GRCh37
NC_000012.10:g.4891947T>G	NCBI36
NG_011815.1:g.7614T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1142T>G MANE Select	ENSP00000371985.3:p.Val381Gly
ENST00000543874.3:n.105+2048T>G
ENST00000639306.1:c.980T>G	ENSP00000492506.1:p.Val327Gly
ENST00000639680.1:c.76+254T>G
ENST00000382545.3:c.1142T>G	ENSP00000371985.3:p.Val381Gly
ENST00000541095.1:n.105+2048T>G
ENST00000543874.2:n.96+2048T>G
NM_000217.2:c.1142T>G	NP_000208.2:p.Val381Gly
NM_000217.3:c.1142T>G MANE Select	NP_000208.2:p.Val381Gly