Canonical Allele Identifier: CA361620341

Gene: POU4F3

Linked Data

• dbSNP Id: rs746793421
• gnomAD v2: 5-145719249-C-G
• gnomAD v4: 5-146339686-C-G
• MyVariant Identifiers: chr5:g.145719249C>G (hg19) ; chr5:g.146339686C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146339686C>G , CM000667.2:g.146339686C>G	GRCh38
NC_000005.9:g.145719249C>G , CM000667.1:g.145719249C>G	GRCh37
NC_000005.8:g.145699442C>G	NCBI36
NG_011885.1:g.5663C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646991.2:c.259C>G MANE Select	ENSP00000495718.1:p.Pro87Ala
ENST00000230732.4:c.259C>G	ENSP00000230732.4:p.Pro87Ala
NM_002700.2:c.259C>G	NP_002691.1:p.Pro87Ala
NM_002700.3:c.259C>G MANE Select	NP_002691.1:p.Pro87Ala