Canonical Allele Identifier: CA6399675
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2144981
ClinVar RCV Id: RCV003064795
dbSNP Id: rs779034667
ExAC: 12:5153934 C / G
gnomAD v2: 12-5153934-C-G
gnomAD v3: 12-5044768-C-G
gnomAD v4: 12-5044768-C-G
MyVariant Identifiers: chr12:g.5153934C>G (hg19) chr12:g.5044768C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044768C>G , CM000674.2:g.5044768C>G GRCh38
NC_000012.11:g.5153934C>G , CM000674.1:g.5153934C>G GRCh37
NC_000012.10:g.5024195C>G NCBI36
NG_012198.1:g.5850C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.621C>G MANE Select ENSP00000252321.3:p.Asp207Glu
ENST00000252321.4:c.621C>G ENSP00000252321.3:p.Asp207Glu
NM_002234.3:c.621C>G NP_002225.2:p.Asp207Glu
NM_002234.4:c.621C>G MANE Select NP_002225.2:p.Asp207Glu
Search 100 bp 5'
Search 100 bp 3'