Canonical Allele Identifier: CA478094569

Gene: KCNA1

Linked Data

• ClinVar Variation Id: 2037354
• ClinVar RCV Id: RCV002885695
• gnomAD v4: 12-4912638-G-A
• MyVariant Identifiers: chr12:g.5021804G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912638G>A , CM000674.2:g.4912638G>A	GRCh38
NC_000012.11:g.5021804G>A , CM000674.1:g.5021804G>A	GRCh37
NC_000012.10:g.4892065G>A	NCBI36
NG_011815.1:g.7732G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1260G>A MANE Select	ENSP00000371985.3:p.Glu420=
ENST00000543874.3:n.105+2166G>A
ENST00000639306.1:c.1098G>A	ENSP00000492506.1:p.Glu366=
ENST00000639680.1:c.76+372G>A
ENST00000382545.3:c.1260G>A	ENSP00000371985.3:p.Glu420=
ENST00000541095.1:n.105+2166G>A
ENST00000543874.2:n.96+2166G>A
NM_000217.2:c.1260G>A	NP_000208.2:p.Glu420=
NM_000217.3:c.1260G>A MANE Select	NP_000208.2:p.Glu420=