Canonical Allele Identifier: CA689648027
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1241159771
gnomAD v3: 12-5046058-A-G
gnomAD v4: 12-5046058-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5046058A>G , CM000674.2:g.5046058A>G GRCh38
NC_000012.11:g.5155224A>G , CM000674.1:g.5155224A>G GRCh37
NC_000012.10:g.5025485A>G NCBI36
NG_012198.1:g.7140A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.*69A>G MANE Select ENSP00000252321.3:n.*69A>G
ENST00000252321.4:c.*69A>G ENSP00000252321.3:n.*69A>G
NM_002234.3:c.*69A>G NP_002225.2:n.*69A>G
NM_002234.4:c.*69A>G MANE Select NP_002225.2:n.*69A>G