Canonical Allele Identifier: CA231867518
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 881350
ClinVar RCV Id: RCV001110301
dbSNP Id: rs765380398
gnomAD v2: 12-5153915-G-A
gnomAD v3: 12-5044749-G-A
gnomAD v4: 12-5044749-G-A
COSMIC: COSM940450
MyVariant Identifiers: chr12:g.5153915G>A (hg19) chr12:g.5044749G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044749G>A , CM000674.2:g.5044749G>A GRCh38
NC_000012.11:g.5153915G>A , CM000674.1:g.5153915G>A GRCh37
NC_000012.10:g.5024176G>A NCBI36
NG_012198.1:g.5831G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.602G>A MANE Select ENSP00000252321.3:p.Arg201His
ENST00000252321.4:c.602G>A ENSP00000252321.3:p.Arg201His
NM_002234.3:c.602G>A NP_002225.2:p.Arg201His
NM_002234.4:c.602G>A MANE Select NP_002225.2:p.Arg201His
Search 100 bp 5'
Search 100 bp 3'