Canonical Allele Identifier: CA3491083
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2869409
ClinVar RCV Id: RCV003705547
dbSNP Id: rs749474595

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339676G>A , CM000667.2:g.146339676G>A GRCh38
NC_000005.9:g.145719239G>A , CM000667.1:g.145719239G>A GRCh37
NC_000005.8:g.145699432G>A NCBI36
NG_011885.1:g.5653G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.249G>A MANE Select ENSP00000495718.1:p.Met83Ile
ENST00000230732.4:c.249G>A ENSP00000230732.4:p.Met83Ile
NM_002700.2:c.249G>A NP_002691.1:p.Met83Ile
NM_002700.3:c.249G>A MANE Select NP_002691.1:p.Met83Ile