Canonical Allele Identifier: CA478095629
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2797376
ClinVar RCV Id: RCV003627641
dbSNP Id: rs746268474
gnomAD v4: 12-5045207-C-A
MyVariant Identifiers: chr12:g.5154373C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045207C>A , CM000674.2:g.5045207C>A GRCh38
NC_000012.11:g.5154373C>A , CM000674.1:g.5154373C>A GRCh37
NC_000012.10:g.5024634C>A NCBI36
NG_012198.1:g.6289C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1060C>A MANE Select ENSP00000252321.3:p.Arg354=
ENST00000252321.4:c.1060C>A ENSP00000252321.3:p.Arg354=
NM_002234.3:c.1060C>A NP_002225.2:p.Arg354=
NM_002234.4:c.1060C>A MANE Select NP_002225.2:p.Arg354=
Search 100 bp 5'
Search 100 bp 3'