Canonical Allele Identifier: CA6399847
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 309339
ClinVar RCV Id: RCV000390364
dbSNP Id: rs147209278
gnomAD v2: 12-5154642-C-T
gnomAD v3: 12-5045476-C-T
gnomAD v4: 12-5045476-C-T
COSMIC: COSM940460

Genomic Alleles

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

Transcript Alleles

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