Canonical Allele Identifier: CA128861284

Gene: POU4F3

Linked Data

• dbSNP Id: rs751097046
• gnomAD v2: 5-145719773-G-C
• gnomAD v4: 5-146340210-G-C
• MyVariant Identifiers: chr5:g.145719773G>C (hg19) ; chr5:g.146340210G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146340210G>C , CM000667.2:g.146340210G>C	GRCh38
NC_000005.9:g.145719773G>C , CM000667.1:g.145719773G>C	GRCh37
NC_000005.8:g.145699966G>C	NCBI36
NG_011885.1:g.6187G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646991.2:c.783G>C MANE Select	ENSP00000495718.1:p.Glu261Asp
ENST00000230732.4:c.783G>C	ENSP00000230732.4:p.Glu261Asp
NM_002700.2:c.783G>C	NP_002691.1:p.Glu261Asp
NM_002700.3:c.783G>C MANE Select	NP_002691.1:p.Glu261Asp