Canonical Allele Identifier: CA16616765
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 101525
ClinVar RCV Id: RCV000087754
dbSNP Id: rs1064792854

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340089_146340102del , CM000667.2:g.146340089_146340102del GRCh38
NC_000005.9:g.145719652_145719665del , CM000667.1:g.145719652_145719665del GRCh37
NC_000005.8:g.145699845_145699858del NCBI36
NG_011885.1:g.6066_6079del

Transcript Alleles

HGVS Amino-acid change
ENST00000646991.2:c.662_675del MANE Select ENSP00000495718.1:p.Gly221GlufsTer?
ENST00000230732.4:c.662_675del ENSP00000230732.4:p.Gly221GlufsTer?
NM_002700.2:c.662_675del NP_002691.1:p.Gly221GlufsTer?
NM_002700.3:c.662_675del MANE Select NP_002691.1:p.Gly221GlufsTer?