Canonical Allele Identifier: CA361621025
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1386873
ClinVar RCV Id: RCV001881676
dbSNP Id: rs2126961617
gnomAD v4: 5-146339964-C-A
MyVariant Identifiers: chr5:g.145719527C>A (hg19) chr5:g.146339964C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339964C>A , CM000667.2:g.146339964C>A GRCh38
NC_000005.9:g.145719527C>A , CM000667.1:g.145719527C>A GRCh37
NC_000005.8:g.145699720C>A NCBI36
NG_011885.1:g.5941C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000646991.2:c.537C>A MANE Select ENSP00000495718.1:p.Asp179Glu
ENST00000230732.4:c.537C>A ENSP00000230732.4:p.Asp179Glu
NM_002700.2:c.537C>A NP_002691.1:p.Asp179Glu
NM_002700.3:c.537C>A MANE Select NP_002691.1:p.Asp179Glu
Search 100 bp 5'
Search 100 bp 3'