Canonical Allele Identifier: CA478094098
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v4: 12-4911720-C-G
MyVariant Identifiers: chr12:g.5020886C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911720C>G , CM000674.2:g.4911720C>G GRCh38
NC_000012.11:g.5020886C>G , CM000674.1:g.5020886C>G GRCh37
NC_000012.10:g.4891147C>G NCBI36
NG_011815.1:g.6814C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.342C>G MANE Select ENSP00000371985.3:p.Ser114=
ENST00000543874.3:n.105+1248C>G
ENST00000639306.1:c.180C>G ENSP00000492506.1:p.Ser60=
ENST00000382545.3:c.342C>G ENSP00000371985.3:p.Ser114=
ENST00000541095.1:n.105+1248C>G
ENST00000543874.2:n.96+1248C>G
NM_000217.2:c.342C>G NP_000208.2:p.Ser114=
NM_000217.3:c.342C>G MANE Select NP_000208.2:p.Ser114=
Search 100 bp 5'
Search 100 bp 3'