Canonical Allele Identifier: CA3491151

Gene: POU4F3

Linked Data

• ClinVar Variation Id: 504672
• ClinVar RCV Id: RCV000605952 ; RCV001854135 ; RCV002506448
• dbSNP Id: rs148985828
• ExAC: 5:145719503 C / A
• gnomAD v2: 5-145719503-C-A
• gnomAD v3: 5-146339940-C-A
• gnomAD v4: 5-146339940-C-A
• MyVariant Identifiers: chr5:g.145719503C>A (hg19) ; chr5:g.146339940C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146339940C>A , CM000667.2:g.146339940C>A	GRCh38
NC_000005.9:g.145719503C>A , CM000667.1:g.145719503C>A	GRCh37
NC_000005.8:g.145699696C>A	NCBI36
NG_011885.1:g.5917C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646991.2:c.513C>A MANE Select	ENSP00000495718.1:p.Ser171Arg
ENST00000230732.4:c.513C>A	ENSP00000230732.4:p.Ser171Arg
NM_002700.2:c.513C>A	NP_002691.1:p.Ser171Arg
NM_002700.3:c.513C>A MANE Select	NP_002691.1:p.Ser171Arg