Canonical Allele Identifier: CA478094981
Gene: KCNA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5021759T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912593T>A , CM000674.2:g.4912593T>A GRCh38
NC_000012.11:g.5021759T>A , CM000674.1:g.5021759T>A GRCh37
NC_000012.10:g.4892020T>A NCBI36
NG_011815.1:g.7687T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382545.5:c.1215T>A MANE Select ENSP00000371985.3:p.Pro405=
ENST00000543874.3:n.105+2121T>A
ENST00000639306.1:c.1053T>A ENSP00000492506.1:p.Pro351=
ENST00000639680.1:c.76+327T>A
ENST00000382545.3:c.1215T>A ENSP00000371985.3:p.Pro405=
ENST00000541095.1:n.105+2121T>A
ENST00000543874.2:n.96+2121T>A
NM_000217.2:c.1215T>A NP_000208.2:p.Pro405=
NM_000217.3:c.1215T>A MANE Select NP_000208.2:p.Pro405=