Canonical Allele Identifier: CA3491114
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1197133
ClinVar RCV Id: RCV001560853
dbSNP Id: rs767819165
ExAC: 5:145719347 G / A
gnomAD v3: 5-146339784-G-A
gnomAD v4: 5-146339784-G-A
MyVariant Identifiers: chr5:g.145719347G>A (hg19) chr5:g.146339784G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339784G>A , CM000667.2:g.146339784G>A GRCh38
NC_000005.9:g.145719347G>A , CM000667.1:g.145719347G>A GRCh37
NC_000005.8:g.145699540G>A NCBI36
NG_011885.1:g.5761G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.357G>A MANE Select ENSP00000495718.1:p.Leu119=
ENST00000230732.4:c.357G>A ENSP00000230732.4:p.Leu119=
NM_002700.2:c.357G>A NP_002691.1:p.Leu119=
NM_002700.3:c.357G>A MANE Select NP_002691.1:p.Leu119=
Search 100 bp 5'
Search 100 bp 3'