Canonical Allele Identifier: CA563234465

Gene: POU4F3

Linked Data

• dbSNP Id: rs1316209266
• gnomAD v2: 5-145719091-G-A
• gnomAD v3: 5-146339528-G-A
• gnomAD v4: 5-146339528-G-A
• MyVariant Identifiers: chr5:g.145719091G>A (hg19) ; chr5:g.146339528G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146339528G>A , CM000667.2:g.146339528G>A	GRCh38
NC_000005.9:g.145719091G>A , CM000667.1:g.145719091G>A	GRCh37
NC_000005.8:g.145699284G>A	NCBI36
NG_011885.1:g.5505G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646991.2:c.121-20G>A MANE Select	ENSP00000495718.1:n.121-20G>A
ENST00000230732.4:c.121-20G>A	ENSP00000230732.4:n.121-20G>A
NM_002700.2:c.121-20G>A	NP_002691.1:n.121-20G>A
NM_002700.3:c.121-20G>A MANE Select	NP_002691.1:n.121-20G>A