Canonical Allele Identifier: CA6399772
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 469603
ClinVar RCV Id: RCV002291662
dbSNP Id: rs139614200
ExAC: 12:5154277 G / C
gnomAD v2: 12-5154277-G-C
gnomAD v3: 12-5045111-G-C
gnomAD v4: 12-5045111-G-C
MyVariant Identifiers: chr12:g.5154277G>C (hg19) chr12:g.5045111G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045111G>C , CM000674.2:g.5045111G>C GRCh38
NC_000012.11:g.5154277G>C , CM000674.1:g.5154277G>C GRCh37
NC_000012.10:g.5024538G>C NCBI36
NG_012198.1:g.6193G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.964G>C MANE Select ENSP00000252321.3:p.Asp322His
ENST00000252321.4:c.964G>C ENSP00000252321.3:p.Asp322His
NM_002234.3:c.964G>C NP_002225.2:p.Asp322His
NM_002234.4:c.964G>C MANE Select NP_002225.2:p.Asp322His
Search 100 bp 5'
Search 100 bp 3'