Canonical Allele Identifier: CA6399848
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1150670
ClinVar RCV Id: RCV001491327
dbSNP Id: rs147209278
ExAC: 12:5154642 C / A
gnomAD v2: 12-5154642-C-A
gnomAD v4: 12-5045476-C-A
MyVariant Identifiers: chr12:g.5154642C>A (hg19) chr12:g.5045476C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045476C>A , CM000674.2:g.5045476C>A GRCh38
NC_000012.11:g.5154642C>A , CM000674.1:g.5154642C>A GRCh37
NC_000012.10:g.5024903C>A NCBI36
NG_012198.1:g.6558C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1329C>A MANE Select ENSP00000252321.3:p.Ile443=
ENST00000252321.4:c.1329C>A ENSP00000252321.3:p.Ile443=
NM_002234.3:c.1329C>A NP_002225.2:p.Ile443=
NM_002234.4:c.1329C>A MANE Select NP_002225.2:p.Ile443=
Search 100 bp 5'
Search 100 bp 3'