Canonical Allele Identifier: CA3491197

Gene: POU4F3

Linked Data

• dbSNP Id: rs1554087674
• ExAC: 5:145719771 G / A
• gnomAD v2: 5-145719771-G-A
• gnomAD v4: 5-146340208-G-A
• MyVariant Identifiers: chr5:g.145719771G>A (hg19) ; chr5:g.145719771_145719774delinsAAGA (hg19) ; chr5:g.146340208G>A (hg38) ; chr5:g.146340208_146340211delinsAAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146340208G>A , CM000667.2:g.146340208G>A	GRCh38
NC_000005.9:g.145719771G>A , CM000667.1:g.145719771G>A	GRCh37
NC_000005.8:g.145699964G>A	NCBI36
NG_011885.1:g.6185G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646991.2:c.781G>A MANE Select	ENSP00000495718.1:p.Glu261Lys
ENST00000230732.4:c.781G>A	ENSP00000230732.4:p.Glu261Lys
NM_002700.2:c.781G>A	NP_002691.1:p.Glu261Lys
NM_002700.3:c.781G>A MANE Select	NP_002691.1:p.Glu261Lys