Canonical Allele Identifier: CA383454421
Gene: KCNA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5020920G>A (hg19) chr12:g.4911754G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911754G>A , CM000674.2:g.4911754G>A GRCh38
NC_000012.11:g.5020920G>A , CM000674.1:g.5020920G>A GRCh37
NC_000012.10:g.4891181G>A NCBI36
NG_011815.1:g.6848G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.376G>A MANE Select ENSP00000371985.3:p.Ala126Thr
ENST00000543874.3:n.105+1282G>A
ENST00000639306.1:c.214G>A ENSP00000492506.1:p.Ala72Thr
ENST00000382545.3:c.376G>A ENSP00000371985.3:p.Ala126Thr
ENST00000541095.1:n.105+1282G>A
ENST00000543874.2:n.96+1282G>A
NM_000217.2:c.376G>A NP_000208.2:p.Ala126Thr
NM_000217.3:c.376G>A MANE Select NP_000208.2:p.Ala126Thr
Search 100 bp 5'
Search 100 bp 3'