Canonical Allele Identifier: CA3491112
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2303862
ClinVar RCV Id: RCV002855909
dbSNP Id: rs773942172
ExAC: 5:145719331 G / A
gnomAD v2: 5-145719331-G-A
gnomAD v4: 5-146339768-G-A
MyVariant Identifiers: chr5:g.145719331G>A (hg19) chr5:g.146339768G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339768G>A , CM000667.2:g.146339768G>A GRCh38
NC_000005.9:g.145719331G>A , CM000667.1:g.145719331G>A GRCh37
NC_000005.8:g.145699524G>A NCBI36
NG_011885.1:g.5745G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.341G>A MANE Select ENSP00000495718.1:p.Gly114Asp
ENST00000230732.4:c.341G>A ENSP00000230732.4:p.Gly114Asp
NM_002700.2:c.341G>A NP_002691.1:p.Gly114Asp
NM_002700.3:c.341G>A MANE Select NP_002691.1:p.Gly114Asp
Search 100 bp 5'
Search 100 bp 3'