Canonical Allele Identifier: CA2590847930
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs2137770769
gnomAD v3: 12-5044035-A-G
gnomAD v4: 12-5044035-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044035A>G , CM000674.2:g.5044035A>G GRCh38
NC_000012.11:g.5153201A>G , CM000674.1:g.5153201A>G GRCh37
NC_000012.10:g.5023462A>G NCBI36
NG_012198.1:g.5117A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.-113A>G MANE Select ENSP00000252321.3:n.-113A>G
ENST00000252321.4:c.-113A>G ENSP00000252321.3:n.-113A>G
NM_002234.3:c.-113A>G NP_002225.2:n.-113A>G
NM_002234.4:c.-113A>G MANE Select NP_002225.2:n.-113A>G