Canonical Allele Identifier: CA6399481

Gene: KCNA1

Linked Data

• dbSNP Id: rs779873859
• ExAC: 12:5021823 T / A
• gnomAD v2: 12-5021823-T-A
• MyVariant Identifiers: chr12:g.5021823T>A (hg19) ; chr12:g.4912657T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912657T>A , CM000674.2:g.4912657T>A	GRCh38
NC_000012.11:g.5021823T>A , CM000674.1:g.5021823T>A	GRCh37
NC_000012.10:g.4892084T>A	NCBI36
NG_011815.1:g.7751T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1279T>A MANE Select	ENSP00000371985.3:p.Leu427Met
ENST00000543874.3:n.105+2185T>A
ENST00000639306.1:c.1117T>A	ENSP00000492506.1:p.Leu373Met
ENST00000639680.1:c.76+391T>A
ENST00000382545.3:c.1279T>A	ENSP00000371985.3:p.Leu427Met
ENST00000541095.1:n.105+2185T>A
ENST00000543874.2:n.96+2185T>A
NM_000217.2:c.1279T>A	NP_000208.2:p.Leu427Met
NM_000217.3:c.1279T>A MANE Select	NP_000208.2:p.Leu427Met