Canonical Allele Identifier: CA478094561
Gene: KCNA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5021798A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912632A>G , CM000674.2:g.4912632A>G GRCh38
NC_000012.11:g.5021798A>G , CM000674.1:g.5021798A>G GRCh37
NC_000012.10:g.4892059A>G NCBI36
NG_011815.1:g.7726A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1254A>G MANE Select ENSP00000371985.3:p.Glu418=
ENST00000543874.3:n.105+2160A>G
ENST00000639306.1:c.1092A>G ENSP00000492506.1:p.Glu364=
ENST00000639680.1:c.76+366A>G
ENST00000382545.3:c.1254A>G ENSP00000371985.3:p.Glu418=
ENST00000541095.1:n.105+2160A>G
ENST00000543874.2:n.96+2160A>G
NM_000217.2:c.1254A>G NP_000208.2:p.Glu418=
NM_000217.3:c.1254A>G MANE Select NP_000208.2:p.Glu418=