Canonical Allele Identifier: CA6399661
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1988061
ClinVar RCV Id: RCV002781110
dbSNP Id: rs775398772
ExAC: 12:5153895 C / A
gnomAD v2: 12-5153895-C-A
gnomAD v4: 12-5044729-C-A
MyVariant Identifiers: chr12:g.5153895C>A (hg19) chr12:g.5044729C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044729C>A , CM000674.2:g.5044729C>A GRCh38
NC_000012.11:g.5153895C>A , CM000674.1:g.5153895C>A GRCh37
NC_000012.10:g.5024156C>A NCBI36
NG_012198.1:g.5811C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.582C>A MANE Select ENSP00000252321.3:p.Asp194Glu
ENST00000252321.4:c.582C>A ENSP00000252321.3:p.Asp194Glu
NM_002234.3:c.582C>A NP_002225.2:p.Asp194Glu
NM_002234.4:c.582C>A MANE Select NP_002225.2:p.Asp194Glu
Search 100 bp 5'
Search 100 bp 3'