Canonical Allele Identifier: CA361622113

Gene: POU4F3

Linked Data

• gnomAD v4: 5-146340167-T-A
• MyVariant Identifiers: chr5:g.145719730T>A (hg19) ; chr5:g.146340167T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146340167T>A , CM000667.2:g.146340167T>A	GRCh38
NC_000005.9:g.145719730T>A , CM000667.1:g.145719730T>A	GRCh37
NC_000005.8:g.145699923T>A	NCBI36
NG_011885.1:g.6144T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646991.2:c.740T>A MANE Select	ENSP00000495718.1:p.Val247Glu
ENST00000230732.4:c.740T>A	ENSP00000230732.4:p.Val247Glu
NM_002700.2:c.740T>A	NP_002691.1:p.Val247Glu
NM_002700.3:c.740T>A MANE Select	NP_002691.1:p.Val247Glu