Canonical Allele Identifier: CA383464835
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2266006
ClinVar RCV Id: RCV002793574 RCV003777779
COSMIC: COSM1362362
MyVariant Identifiers: chr12:g.5153948G>A (hg19) chr12:g.5044782G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044782G>A , CM000674.2:g.5044782G>A GRCh38
NC_000012.11:g.5153948G>A , CM000674.1:g.5153948G>A GRCh37
NC_000012.10:g.5024209G>A NCBI36
NG_012198.1:g.5864G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.635G>A MANE Select ENSP00000252321.3:p.Arg212His
ENST00000252321.4:c.635G>A ENSP00000252321.3:p.Arg212His
NM_002234.3:c.635G>A NP_002225.2:p.Arg212His
NM_002234.4:c.635G>A MANE Select NP_002225.2:p.Arg212His
Search 100 bp 5'
Search 100 bp 3'