Canonical Allele Identifier: CA383456261
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1475172
ClinVar RCV Id: RCV002007815
dbSNP Id: rs2137673966
MyVariant Identifiers: chr12:g.5021745G>A (hg19) chr12:g.4912579G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912579G>A , CM000674.2:g.4912579G>A GRCh38
NC_000012.11:g.5021745G>A , CM000674.1:g.5021745G>A GRCh37
NC_000012.10:g.4892006G>A NCBI36
NG_011815.1:g.7673G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1201G>A MANE Select ENSP00000371985.3:p.Ala401Thr
ENST00000543874.3:n.105+2107G>A
ENST00000639306.1:c.1039G>A ENSP00000492506.1:p.Ala347Thr
ENST00000639680.1:c.76+313G>A
ENST00000382545.3:c.1201G>A ENSP00000371985.3:p.Ala401Thr
ENST00000541095.1:n.105+2107G>A
ENST00000543874.2:n.96+2107G>A
NM_000217.2:c.1201G>A NP_000208.2:p.Ala401Thr
NM_000217.3:c.1201G>A MANE Select NP_000208.2:p.Ala401Thr
Search 100 bp 5'
Search 100 bp 3'