Canonical Allele Identifier: CA231869404
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 665819
ClinVar RCV Id: RCV000824187
dbSNP Id: rs991950771
gnomAD v2: 12-5155139-G-A
gnomAD v3: 12-5045973-G-A
gnomAD v4: 12-5045973-G-A
COSMIC: COSM2009203
MyVariant Identifiers: chr12:g.5155139G>A (hg19) chr12:g.5045973G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045973G>A , CM000674.2:g.5045973G>A GRCh38
NC_000012.11:g.5155139G>A , CM000674.1:g.5155139G>A GRCh37
NC_000012.10:g.5025400G>A NCBI36
NG_012198.1:g.7055G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1826G>A MANE Select ENSP00000252321.3:p.Arg609Gln
ENST00000252321.4:c.1826G>A ENSP00000252321.3:p.Arg609Gln
NM_002234.3:c.1826G>A NP_002225.2:p.Arg609Gln
NM_002234.4:c.1826G>A MANE Select NP_002225.2:p.Arg609Gln
Search 100 bp 5'
Search 100 bp 3'