Canonical Allele Identifier: CA6399920
Gene: KCNA5 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.5045819G>A
GRCh37 chr12:g.5154985G>A
Revel Score:
ENST00000252321 (MANE Select) 0.249
gnomAD v2:
12:5154985 G / A
gnomAD v3:
12:5045819 G / A
gnomAD v4:
chr12-5045819-G-A
Joint Max Group AF 0.00008424 (NFE)
Genomes Max Group AF 0.000124 (NFE)
Exomes Max Group AF 0.00007773 (NFE)
ClinVar Allele:
463167
ClinVar RCV:
RCV000534556
RCV002464254
ClinVar Variation:
469587
dbSNP:
201328038
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045819G>A , CM000674.2:g.5045819G>A GRCh38
NC_000012.11:g.5154985G>A , CM000674.1:g.5154985G>A GRCh37
NC_000012.10:g.5025246G>A NCBI36
NG_012198.1:g.6901G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1672G>A MANE Select ENSP00000252321.3:p.Gly558Arg
ENST00000252321.4:c.1672G>A ENSP00000252321.3:p.Gly558Arg
NM_002234.3:c.1672G>A NP_002225.2:p.Gly558Arg
NM_002234.4:c.1672G>A MANE Select NP_002225.2:p.Gly558Arg
Search 100 bp 5'
Search 100 bp 3'