Canonical Allele Identifier: CA383464684
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 968432
ClinVar RCV Id: RCV001243560
dbSNP Id: rs1862751394
MyVariant Identifiers: chr12:g.5153873G>A (hg19) chr12:g.5044707G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044707G>A , CM000674.2:g.5044707G>A GRCh38
NC_000012.11:g.5153873G>A , CM000674.1:g.5153873G>A GRCh37
NC_000012.10:g.5024134G>A NCBI36
NG_012198.1:g.5789G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.560G>A MANE Select ENSP00000252321.3:p.Arg187Lys
ENST00000252321.4:c.560G>A ENSP00000252321.3:p.Arg187Lys
NM_002234.3:c.560G>A NP_002225.2:p.Arg187Lys
NM_002234.4:c.560G>A MANE Select NP_002225.2:p.Arg187Lys
Search 100 bp 5'
Search 100 bp 3'