Canonical Allele Identifier: CA236721
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 191464
ClinVar RCV Id: RCV000171657
dbSNP Id: rs199525305
ExAC: 12:5154279 C / G
gnomAD v2: 12-5154279-C-G
gnomAD v4: 12-5045113-C-G
MyVariant Identifiers: chr12:g.5154279C>G (hg19) chr12:g.5045113C>G (hg38)
PubMed: PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045113C>G , CM000674.2:g.5045113C>G GRCh38
NC_000012.11:g.5154279C>G , CM000674.1:g.5154279C>G GRCh37
NC_000012.10:g.5024540C>G NCBI36
NG_012198.1:g.6195C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.966C>G MANE Select ENSP00000252321.3:p.Asp322Glu
ENST00000252321.4:c.966C>G ENSP00000252321.3:p.Asp322Glu
NM_002234.3:c.966C>G NP_002225.2:p.Asp322Glu
NM_002234.4:c.966C>G MANE Select NP_002225.2:p.Asp322Glu
Search 100 bp 5'
Search 100 bp 3'