Canonical Allele Identifier: CA383456427

Gene: KCNA1

Linked Data

• ClinVar Variation Id: 2116808
• ClinVar RCV Id: RCV003035193
• MyVariant Identifiers: chr12:g.5021821A>G (hg19) ; chr12:g.4912655A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912655A>G , CM000674.2:g.4912655A>G	GRCh38
NC_000012.11:g.5021821A>G , CM000674.1:g.5021821A>G	GRCh37
NC_000012.10:g.4892082A>G	NCBI36
NG_011815.1:g.7749A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1277A>G MANE Select	ENSP00000371985.3:p.Gln426Arg
ENST00000543874.3:n.105+2183A>G
ENST00000639306.1:c.1115A>G	ENSP00000492506.1:p.Gln372Arg
ENST00000639680.1:c.76+389A>G
ENST00000382545.3:c.1277A>G	ENSP00000371985.3:p.Gln426Arg
ENST00000541095.1:n.105+2183A>G
ENST00000543874.2:n.96+2183A>G
NM_000217.2:c.1277A>G	NP_000208.2:p.Gln426Arg
NM_000217.3:c.1277A>G MANE Select	NP_000208.2:p.Gln426Arg