Canonical Allele Identifier: CA383465376
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2627437
dbSNP Id: rs773608258
gnomAD v2: 12-5154210-C-A
gnomAD v3: 12-5045044-C-A
gnomAD v4: 12-5045044-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045044C>A , CM000674.2:g.5045044C>A GRCh38
NC_000012.11:g.5154210C>A , CM000674.1:g.5154210C>A GRCh37
NC_000012.10:g.5024471C>A NCBI36
NG_012198.1:g.6126C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.897C>A MANE Select ENSP00000252321.3:p.Asn299Lys
ENST00000252321.4:c.897C>A ENSP00000252321.3:p.Asn299Lys
NM_002234.3:c.897C>A NP_002225.2:p.Asn299Lys
NM_002234.4:c.897C>A MANE Select NP_002225.2:p.Asn299Lys