Canonical Allele Identifier: CA383455294

Gene: KCNA1

Linked Data

• ClinVar Variation Id: 2864740
• ClinVar RCV Id: RCV003626300
• MyVariant Identifiers: chr12:g.5021311T>G (hg19) ; chr12:g.4912145T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912145T>G , CM000674.2:g.4912145T>G	GRCh38
NC_000012.11:g.5021311T>G , CM000674.1:g.5021311T>G	GRCh37
NC_000012.10:g.4891572T>G	NCBI36
NG_011815.1:g.7239T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382545.5:c.767T>G MANE Select	ENSP00000371985.3:p.Phe256Cys
ENST00000543874.3:n.105+1673T>G
ENST00000639306.1:c.605T>G	ENSP00000492506.1:p.Phe202Cys
ENST00000382545.3:c.767T>G	ENSP00000371985.3:p.Phe256Cys
ENST00000541095.1:n.105+1673T>G
ENST00000543874.2:n.96+1673T>G
NM_000217.2:c.767T>G	NP_000208.2:p.Phe256Cys
NM_000217.3:c.767T>G MANE Select	NP_000208.2:p.Phe256Cys