Canonical Allele Identifier: CA361622688

Gene: POU4F3

Linked Data

• gnomAD v4: 5-146340268-A-G
• MyVariant Identifiers: chr5:g.145719831A>G (hg19) ; chr5:g.146340268A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146340268A>G , CM000667.2:g.146340268A>G	GRCh38
NC_000005.9:g.145719831A>G , CM000667.1:g.145719831A>G	GRCh37
NC_000005.8:g.145700024A>G	NCBI36
NG_011885.1:g.6245A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646991.2:c.841A>G MANE Select	ENSP00000495718.1:p.Ile281Val
ENST00000230732.4:c.841A>G	ENSP00000230732.4:p.Ile281Val
NM_002700.2:c.841A>G	NP_002691.1:p.Ile281Val
NM_002700.3:c.841A>G MANE Select	NP_002691.1:p.Ile281Val