Canonical Allele Identifier: CA6399940
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1501884
ClinVar RCV Id: RCV002010838
dbSNP Id: rs749967376
ExAC: 12:5155057 C / A
gnomAD v3: 12-5045891-C-A
gnomAD v4: 12-5045891-C-A
MyVariant Identifiers: chr12:g.5155057C>A (hg19) chr12:g.5045891C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045891C>A , CM000674.2:g.5045891C>A GRCh38
NC_000012.11:g.5155057C>A , CM000674.1:g.5155057C>A GRCh37
NC_000012.10:g.5025318C>A NCBI36
NG_012198.1:g.6973C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1744C>A MANE Select ENSP00000252321.3:p.Pro582Thr
ENST00000252321.4:c.1744C>A ENSP00000252321.3:p.Pro582Thr
NM_002234.3:c.1744C>A NP_002225.2:p.Pro582Thr
NM_002234.4:c.1744C>A MANE Select NP_002225.2:p.Pro582Thr
Search 100 bp 5'
Search 100 bp 3'