Canonical Allele Identifier: CA383461831
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1001400
ClinVar RCV Id: RCV001297689
dbSNP Id: rs1197530568
gnomAD v2: 12-5153381-G-A
gnomAD v4: 12-5044215-G-A
MyVariant Identifiers: chr12:g.5153381G>A (hg19) chr12:g.5044215G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044215G>A , CM000674.2:g.5044215G>A GRCh38
NC_000012.11:g.5153381G>A , CM000674.1:g.5153381G>A GRCh37
NC_000012.10:g.5023642G>A NCBI36
NG_012198.1:g.5297G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.68G>A MANE Select ENSP00000252321.3:p.Arg23Gln
ENST00000252321.4:c.68G>A ENSP00000252321.3:p.Arg23Gln
NM_002234.3:c.68G>A NP_002225.2:p.Arg23Gln
NM_002234.4:c.68G>A MANE Select NP_002225.2:p.Arg23Gln
Search 100 bp 5'
Search 100 bp 3'