Canonical Allele Identifier: CA231866862
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs918350422
gnomAD v2: 12-5153483-A-G
gnomAD v3: 12-5044317-A-G
gnomAD v4: 12-5044317-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044317A>G , CM000674.2:g.5044317A>G GRCh38
NC_000012.11:g.5153483A>G , CM000674.1:g.5153483A>G GRCh37
NC_000012.10:g.5023744A>G NCBI36
NG_012198.1:g.5399A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.170A>G MANE Select ENSP00000252321.3:p.Gln57Arg
ENST00000252321.4:c.170A>G ENSP00000252321.3:p.Gln57Arg
NM_002234.3:c.170A>G NP_002225.2:p.Gln57Arg
NM_002234.4:c.170A>G MANE Select NP_002225.2:p.Gln57Arg