Canonical Allele Identifier: CA361622682

Gene: POU4F3

Linked Data

• MyVariant Identifiers: chr5:g.145719829C>G (hg19) ; chr5:g.146340266C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146340266C>G , CM000667.2:g.146340266C>G	GRCh38
NC_000005.9:g.145719829C>G , CM000667.1:g.145719829C>G	GRCh37
NC_000005.8:g.145700022C>G	NCBI36
NG_011885.1:g.6243C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646991.2:c.839C>G MANE Select	ENSP00000495718.1:p.Ser280Cys
ENST00000230732.4:c.839C>G	ENSP00000230732.4:p.Ser280Cys
NM_002700.2:c.839C>G	NP_002691.1:p.Ser280Cys
NM_002700.3:c.839C>G MANE Select	NP_002691.1:p.Ser280Cys