Canonical Allele Identifier: CA478095014

Gene: KCNA1

Linked Data

• gnomAD v3: 12-4912611-C-T
• gnomAD v4: 12-4912611-C-T
• MyVariant Identifiers: chr12:g.5021777C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912611C>T , CM000674.2:g.4912611C>T	GRCh38
NC_000012.11:g.5021777C>T , CM000674.1:g.5021777C>T	GRCh37
NC_000012.10:g.4892038C>T	NCBI36
NG_011815.1:g.7705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1233C>T MANE Select	ENSP00000371985.3:p.Phe411=
ENST00000543874.3:n.105+2139C>T
ENST00000639306.1:c.1071C>T	ENSP00000492506.1:p.Phe357=
ENST00000639680.1:c.76+345C>T
ENST00000382545.3:c.1233C>T	ENSP00000371985.3:p.Phe411=
ENST00000541095.1:n.105+2139C>T
ENST00000543874.2:n.96+2139C>T
NM_000217.2:c.1233C>T	NP_000208.2:p.Phe411=
NM_000217.3:c.1233C>T MANE Select	NP_000208.2:p.Phe411=