Canonical Allele Identifier: CA6399568
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 945889
ClinVar RCV Id: RCV001216632 RCV002561902 RCV003153945
dbSNP Id: rs758310507
ExAC: 12:5153527 G / C
gnomAD v2: 12-5153527-G-C
gnomAD v3: 12-5044361-G-C
gnomAD v4: 12-5044361-G-C
MyVariant Identifiers: chr12:g.5153527G>C (hg19) chr12:g.5044361G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044361G>C , CM000674.2:g.5044361G>C GRCh38
NC_000012.11:g.5153527G>C , CM000674.1:g.5153527G>C GRCh37
NC_000012.10:g.5023788G>C NCBI36
NG_012198.1:g.5443G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.214G>C MANE Select ENSP00000252321.3:p.Asp72His
ENST00000252321.4:c.214G>C ENSP00000252321.3:p.Asp72His
NM_002234.3:c.214G>C NP_002225.2:p.Asp72His
NM_002234.4:c.214G>C MANE Select NP_002225.2:p.Asp72His
Search 100 bp 5'
Search 100 bp 3'