Canonical Allele Identifier: CA361621836
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2857410
ClinVar RCV Id: RCV003703839

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340103A>G , CM000667.2:g.146340103A>G GRCh38
NC_000005.9:g.145719666A>G , CM000667.1:g.145719666A>G GRCh37
NC_000005.8:g.145699859A>G NCBI36
NG_011885.1:g.6080A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000646991.2:c.676A>G MANE Select ENSP00000495718.1:p.Ser226Gly
ENST00000230732.4:c.676A>G ENSP00000230732.4:p.Ser226Gly
NM_002700.2:c.676A>G NP_002691.1:p.Ser226Gly
NM_002700.3:c.676A>G MANE Select NP_002691.1:p.Ser226Gly