Canonical Allele Identifier: CA361620836
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2572022
ClinVar RCV Id: RCV003313728
dbSNP Id: rs1048744959
gnomAD v2: 5-145719489-G-A
gnomAD v3: 5-146339926-G-A
gnomAD v4: 5-146339926-G-A
COSMIC: COSM3852419
MyVariant Identifiers: chr5:g.145719489G>A (hg19) chr5:g.146339926G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339926G>A , CM000667.2:g.146339926G>A GRCh38
NC_000005.9:g.145719489G>A , CM000667.1:g.145719489G>A GRCh37
NC_000005.8:g.145699682G>A NCBI36
NG_011885.1:g.5903G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.499G>A MANE Select ENSP00000495718.1:p.Val167Met
ENST00000230732.4:c.499G>A ENSP00000230732.4:p.Val167Met
NM_002700.2:c.499G>A NP_002691.1:p.Val167Met
NM_002700.3:c.499G>A MANE Select NP_002691.1:p.Val167Met
Search 100 bp 5'
Search 100 bp 3'