Canonical Allele Identifier: CA151378
Gene: KCNA5 HGNC NCBI
ClinVar RCV:
RCV000114990
RCV000171655
ClinVar Variation:
127136
dbSNP:
199794307
gnomAD v2:
12:5154226 G / A
gnomAD v3:
12:5045060 G / A
gnomAD v4:
chr12-5045060-G-A
Joint Max Group AF 0.00008262 (NFE)
Genomes Max Group AF 0.00006806 (NFE)
Exomes Max Group AF 0.0000804 (NFE)
MyVariant.info:
GRCh38 chr12:g.5045060G>A
GRCh37 chr12:g.5154226G>A
GRCh37 chr12:g.5154226_5154228delinsACC
Revel Score:
ENST00000252321 (MANE Select) 0.493
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045060G>A , CM000674.2:g.5045060G>A GRCh38
NC_000012.11:g.5154226G>A , CM000674.1:g.5154226G>A GRCh37
NC_000012.10:g.5024487G>A NCBI36
NG_012198.1:g.6142G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.913G>A MANE Select ENSP00000252321.3:p.Ala305Thr
ENST00000252321.4:c.913G>A ENSP00000252321.3:p.Ala305Thr
NM_002234.3:c.913G>A NP_002225.2:p.Ala305Thr
NM_002234.4:c.913G>A MANE Select NP_002225.2:p.Ala305Thr
Search 100 bp 5'
Search 100 bp 3'