Canonical Allele Identifier: CA10604040
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282028
ClinVar RCV Id: RCV000293427
dbSNP Id: rs113994117
MyVariant Identifiers: chr12:g.5021766G>A (hg19) chr12:g.4912600G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912600G>A , CM000674.2:g.4912600G>A GRCh38
NC_000012.11:g.5021766G>A , CM000674.1:g.5021766G>A GRCh37
NC_000012.10:g.4892027G>A NCBI36
NG_011815.1:g.7694G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1222G>A MANE Select ENSP00000371985.3:p.Val408Met
ENST00000543874.3:n.105+2128G>A
ENST00000639306.1:c.1060G>A ENSP00000492506.1:p.Val354Met
ENST00000639680.1:c.76+334G>A
ENST00000382545.3:c.1222G>A ENSP00000371985.3:p.Val408Met
ENST00000541095.1:n.105+2128G>A
ENST00000543874.2:n.96+2128G>A
NM_000217.2:c.1222G>A NP_000208.2:p.Val408Met
NM_000217.3:c.1222G>A MANE Select NP_000208.2:p.Val408Met
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