Canonical Allele Identifier: CA267227
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 96710
ClinVar RCV Id: RCV000082870
dbSNP Id: rs398123070

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340404G>A , CM000667.2:g.146340404G>A GRCh38
NC_000005.9:g.145719967G>A , CM000667.1:g.145719967G>A GRCh37
NC_000005.8:g.145700160G>A NCBI36
NG_011885.1:g.6381G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000646991.2:c.977G>A MANE Select ENSP00000495718.1:p.Arg326Lys
ENST00000230732.4:c.977G>A ENSP00000230732.4:p.Arg326Lys
NM_002700.2:c.977G>A NP_002691.1:p.Arg326Lys
NM_002700.3:c.977G>A MANE Select NP_002691.1:p.Arg326Lys