Canonical Allele Identifier: CA2501150

Gene: POU1F1

Linked Data

• ClinVar Variation Id: 346841
• ClinVar RCV Id: RCV000284892 ; RCV003727709
• dbSNP Id: rs374875206
• ExAC: 3:87311212 A / G
• gnomAD v2: 3-87311212-A-G
• gnomAD v3: 3-87262062-A-G
• gnomAD v4: 3-87262062-A-G
• MyVariant Identifiers: chr3:g.87311212A>G (hg19) ; chr3:g.87262062A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87262062A>G , CM000665.2:g.87262062A>G	GRCh38
NC_000003.11:g.87311212A>G , CM000665.1:g.87311212A>G	GRCh37
NC_000003.10:g.87393902A>G	NCBI36
NG_008225.2:g.19526T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.682+9T>C	ENSP00000342931.3:n.682+9T>C
ENST00000350375.7:c.604+9T>C MANE Select	ENSP00000263781.2:n.604+9T>C
ENST00000344265.7:c.682+9T>C	ENSP00000342931.3:n.682+9T>C
ENST00000350375.6:c.604+9T>C	ENSP00000263781.2:n.604+9T>C
ENST00000560656.1:c.440-1958T>C	ENSP00000452610.1:n.440-1958T>C
ENST00000561167.5:c.379+9T>C	ENSP00000454072.1:n.379+9T>C
NM_000306.3:c.604+9T>C	NP_000297.1:n.604+9T>C
NM_001122757.2:c.682+9T>C	NP_001116229.1:n.682+9T>C
NM_000306.4:c.604+9T>C MANE Select	NP_000297.1:n.604+9T>C
NM_001122757.3:c.682+9T>C	NP_001116229.1:n.682+9T>C