Canonical Allele Identifier: CA361622489

Gene: POU4F3

Linked Data

• gnomAD v4: 5-146340234-C-A
• MyVariant Identifiers: chr5:g.145719797C>A (hg19) ; chr5:g.146340234C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146340234C>A , CM000667.2:g.146340234C>A	GRCh38
NC_000005.9:g.145719797C>A , CM000667.1:g.145719797C>A	GRCh37
NC_000005.8:g.145699990C>A	NCBI36
NG_011885.1:g.6211C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646991.2:c.807C>A MANE Select	ENSP00000495718.1:p.Phe269Leu
ENST00000230732.4:c.807C>A	ENSP00000230732.4:p.Phe269Leu
NM_002700.2:c.807C>A	NP_002691.1:p.Phe269Leu
NM_002700.3:c.807C>A MANE Select	NP_002691.1:p.Phe269Leu