Canonical Allele Identifier: CA199951
Gene: KCNA5 HGNC NCBI
ClinVar RCV:
RCV000171809
RCV000528153
RCV000584775
RCV001572979
ClinVar Variation:
191573
dbSNP:
12720445
gnomAD v2:
12:5155046 G / A
gnomAD v3:
12:5045880 G / A
gnomAD v4:
chr12-5045880-G-A
Joint Max Group AF 0.01096293 (NFE)
Genomes Max Group AF 0.00909006 (NFE)
Exomes Max Group AF 0.0110447 (NFE)
MyVariant.info:
GRCh38 chr12:g.5045880G>A
GRCh37 chr12:g.5155046G>A
Revel Score:
ENST00000252321 (MANE Select) 0.232
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045880G>A , CM000674.2:g.5045880G>A GRCh38
NC_000012.11:g.5155046G>A , CM000674.1:g.5155046G>A GRCh37
NC_000012.10:g.5025307G>A NCBI36
NG_012198.1:g.6962G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1733G>A MANE Select ENSP00000252321.3:p.Arg578Lys
ENST00000252321.4:c.1733G>A ENSP00000252321.3:p.Arg578Lys
NM_002234.3:c.1733G>A NP_002225.2:p.Arg578Lys
NM_002234.4:c.1733G>A MANE Select NP_002225.2:p.Arg578Lys
Search 100 bp 5'
Search 100 bp 3'