Canonical Allele Identifier: CA383456329

Gene: KCNA1

Linked Data

• gnomAD v3: 12-4912613-A-G
• gnomAD v4: 12-4912613-A-G
• COSMIC: COSM218412
• MyVariant Identifiers: chr12:g.5021779A>G (hg19) ; chr12:g.4912613A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912613A>G , CM000674.2:g.4912613A>G	GRCh38
NC_000012.11:g.5021779A>G , CM000674.1:g.5021779A>G	GRCh37
NC_000012.10:g.4892040A>G	NCBI36
NG_011815.1:g.7707A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1235A>G MANE Select	ENSP00000371985.3:p.Asn412Ser
ENST00000543874.3:n.105+2141A>G
ENST00000639306.1:c.1073A>G	ENSP00000492506.1:p.Asn358Ser
ENST00000639680.1:c.76+347A>G
ENST00000382545.3:c.1235A>G	ENSP00000371985.3:p.Asn412Ser
ENST00000541095.1:n.105+2141A>G
ENST00000543874.2:n.96+2141A>G
NM_000217.2:c.1235A>G	NP_000208.2:p.Asn412Ser
NM_000217.3:c.1235A>G MANE Select	NP_000208.2:p.Asn412Ser