Canonical Allele Identifier: CA6399477

Gene: KCNA1

Linked Data

• dbSNP Id: rs757958737
• ExAC: 12:5021771 C / A
• gnomAD v2: 12-5021771-C-A
• MyVariant Identifiers: chr12:g.5021771C>A (hg19) ; chr12:g.4912605C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912605C>A , CM000674.2:g.4912605C>A	GRCh38
NC_000012.11:g.5021771C>A , CM000674.1:g.5021771C>A	GRCh37
NC_000012.10:g.4892032C>A	NCBI36
NG_011815.1:g.7699C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1227C>A MANE Select	ENSP00000371985.3:p.Ser409=
ENST00000543874.3:n.105+2133C>A
ENST00000639306.1:c.1065C>A	ENSP00000492506.1:p.Ser355=
ENST00000639680.1:c.76+339C>A
ENST00000382545.3:c.1227C>A	ENSP00000371985.3:p.Ser409=
ENST00000541095.1:n.105+2133C>A
ENST00000543874.2:n.96+2133C>A
NM_000217.2:c.1227C>A	NP_000208.2:p.Ser409=
NM_000217.3:c.1227C>A MANE Select	NP_000208.2:p.Ser409=