Canonical Allele Identifier: CA341287
Gene: KCNA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13486
ClinVar RCV Id: RCV000014430
dbSNP Id: rs104894354

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912054A>G , CM000674.2:g.4912054A>G GRCh38
NC_000012.11:g.5021220A>G , CM000674.1:g.5021220A>G GRCh37
NC_000012.10:g.4891481A>G NCBI36
NG_011815.1:g.7148A>G

Transcript Alleles

HGVS Amino-acid change
NM_000217.2:c.676A>G VV NP_000208.2:p.Thr226Ala
NM_000217.3:c.676A>G VV
ENST00000382545.3:c.676A>G ENSP00000371985.3:p.Thr226Ala
ENST00000541095.1:n.105+1582A>G
ENST00000543874.2:n.96+1582A>G