Canonical Allele Identifier: CA478094963

Gene: KCNA1

Linked Data

• ClinVar Variation Id: 2773264
• ClinVar RCV Id: RCV003516113
• MyVariant Identifiers: chr12:g.5021750G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912584G>C , CM000674.2:g.4912584G>C	GRCh38
NC_000012.11:g.5021750G>C , CM000674.1:g.5021750G>C	GRCh37
NC_000012.10:g.4892011G>C	NCBI36
NG_011815.1:g.7678G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1206G>C MANE Select	ENSP00000371985.3:p.Leu402=
ENST00000543874.3:n.105+2112G>C
ENST00000639306.1:c.1044G>C	ENSP00000492506.1:p.Leu348=
ENST00000639680.1:c.76+318G>C
ENST00000382545.3:c.1206G>C	ENSP00000371985.3:p.Leu402=
ENST00000541095.1:n.105+2112G>C
ENST00000543874.2:n.96+2112G>C
NM_000217.2:c.1206G>C	NP_000208.2:p.Leu402=
NM_000217.3:c.1206G>C MANE Select	NP_000208.2:p.Leu402=