Canonical Allele Identifier: CA6399686
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1805956
ClinVar RCV Id: RCV002470240
dbSNP Id: rs761101833
ExAC: 12:5153959 G / C
gnomAD v2: 12-5153959-G-C
gnomAD v4: 12-5044793-G-C
MyVariant Identifiers: chr12:g.5153959G>C (hg19) chr12:g.5044793G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044793G>C , CM000674.2:g.5044793G>C GRCh38
NC_000012.11:g.5153959G>C , CM000674.1:g.5153959G>C GRCh37
NC_000012.10:g.5024220G>C NCBI36
NG_012198.1:g.5875G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.646G>C MANE Select ENSP00000252321.3:p.Asp216His
ENST00000252321.4:c.646G>C ENSP00000252321.3:p.Asp216His
NM_002234.3:c.646G>C NP_002225.2:p.Asp216His
NM_002234.4:c.646G>C MANE Select NP_002225.2:p.Asp216His
Search 100 bp 5'
Search 100 bp 3'