Canonical Allele Identifier: CA256879
Gene: KCNA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13485
ClinVar RCV Id: RCV000014429
dbSNP Id: rs104894353

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912353G>C , CM000674.2:g.4912353G>C GRCh38
NC_000012.11:g.5021519G>C , CM000674.1:g.5021519G>C GRCh37
NC_000012.10:g.4891780G>C NCBI36
NG_011815.1:g.7447G>C

Transcript Alleles

HGVS Amino-acid change
NM_000217.2:c.975G>C VV NP_000208.2:p.Glu325Asp
NM_000217.3:c.975G>C VV MANE Preferred
ENST00000382545.3:c.975G>C ENSP00000371985.3:p.Glu325Asp
ENST00000541095.1:n.105+1881G>C
ENST00000543874.2:n.96+1881G>C