Canonical Allele Identifier: CA361622407

Gene: POU4F3

Linked Data

• dbSNP Id: rs1474847485
• gnomAD v3: 5-146340220-A-G
• gnomAD v4: 5-146340220-A-G
• MyVariant Identifiers: chr5:g.145719783A>G (hg19) ; chr5:g.146340220A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146340220A>G , CM000667.2:g.146340220A>G	GRCh38
NC_000005.9:g.145719783A>G , CM000667.1:g.145719783A>G	GRCh37
NC_000005.8:g.145699976A>G	NCBI36
NG_011885.1:g.6197A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000646991.2:c.793A>G MANE Select	ENSP00000495718.1:p.Lys265Glu
ENST00000230732.4:c.793A>G	ENSP00000230732.4:p.Lys265Glu
NM_002700.2:c.793A>G	NP_002691.1:p.Lys265Glu
NM_002700.3:c.793A>G MANE Select	NP_002691.1:p.Lys265Glu