Canonical Allele Identifier: CA256881
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 13488
ClinVar RCV Id: RCV000014432
dbSNP Id: rs267607195

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911908T>A , CM000674.2:g.4911908T>A GRCh38
NC_000012.11:g.5021074T>A , CM000674.1:g.5021074T>A GRCh37
NC_000012.10:g.4891335T>A NCBI36
NG_011815.1:g.7002T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.530T>A MANE Select ENSP00000371985.3:p.Ile177Asn
ENST00000543874.3:n.105+1436T>A
ENST00000639306.1:c.368T>A ENSP00000492506.1:p.Ile123Asn
ENST00000382545.3:c.530T>A ENSP00000371985.3:p.Ile177Asn
ENST00000541095.1:n.105+1436T>A
ENST00000543874.2:n.96+1436T>A
NM_000217.2:c.530T>A NP_000208.2:p.Ile177Asn
NM_000217.3:c.530T>A MANE Select NP_000208.2:p.Ile177Asn