Canonical Allele Identifier: CA383455776

Gene: KCNA1

Linked Data

• ClinVar Variation Id: 1994858
• ClinVar RCV Id: RCV002791441
• MyVariant Identifiers: chr12:g.5021529C>T (hg19) ; chr12:g.4912363C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912363C>T , CM000674.2:g.4912363C>T	GRCh38
NC_000012.11:g.5021529C>T , CM000674.1:g.5021529C>T	GRCh37
NC_000012.10:g.4891790C>T	NCBI36
NG_011815.1:g.7457C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382545.5:c.985C>T MANE Select	ENSP00000371985.3:p.Leu329Phe
ENST00000543874.3:n.105+1891C>T
ENST00000639306.1:c.823C>T	ENSP00000492506.1:p.Leu275Phe
ENST00000639680.1:c.76+97C>T
ENST00000382545.3:c.985C>T	ENSP00000371985.3:p.Leu329Phe
ENST00000541095.1:n.105+1891C>T
ENST00000543874.2:n.96+1891C>T
NM_000217.2:c.985C>T	NP_000208.2:p.Leu329Phe
NM_000217.3:c.985C>T MANE Select	NP_000208.2:p.Leu329Phe