Canonical Allele Identifier: CA361620749
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2709079
ClinVar RCV Id: RCV003547827

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339887C>T , CM000667.2:g.146339887C>T GRCh38
NC_000005.9:g.145719450C>T , CM000667.1:g.145719450C>T GRCh37
NC_000005.8:g.145699643C>T NCBI36
NG_011885.1:g.5864C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.460C>T MANE Select ENSP00000495718.1:p.His154Tyr
ENST00000230732.4:c.460C>T ENSP00000230732.4:p.His154Tyr
NM_002700.2:c.460C>T NP_002691.1:p.His154Tyr
NM_002700.3:c.460C>T MANE Select NP_002691.1:p.His154Tyr