Canonical Allele Identifier: CA383456342

Gene: KCNA1

Linked Data

• gnomAD v3: 12-4912618-T-G
• gnomAD v4: 12-4912618-T-G
• MyVariant Identifiers: chr12:g.5021784T>G (hg19) ; chr12:g.4912618T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912618T>G , CM000674.2:g.4912618T>G	GRCh38
NC_000012.11:g.5021784T>G , CM000674.1:g.5021784T>G	GRCh37
NC_000012.10:g.4892045T>G	NCBI36
NG_011815.1:g.7712T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1240T>G MANE Select	ENSP00000371985.3:p.Phe414Val
ENST00000543874.3:n.105+2146T>G
ENST00000639306.1:c.1078T>G	ENSP00000492506.1:p.Phe360Val
ENST00000639680.1:c.76+352T>G
ENST00000382545.3:c.1240T>G	ENSP00000371985.3:p.Phe414Val
ENST00000541095.1:n.105+2146T>G
ENST00000543874.2:n.96+2146T>G
NM_000217.2:c.1240T>G	NP_000208.2:p.Phe414Val
NM_000217.3:c.1240T>G MANE Select	NP_000208.2:p.Phe414Val