Canonical Allele Identifier: CA2501202

Gene: POU1F1

Linked Data

• dbSNP Id: rs371191223
• ExAC: 3:87313416 G / C
• gnomAD v2: 3-87313416-G-C
• gnomAD v4: 3-87264266-G-C
• MyVariant Identifiers: chr3:g.87313416G>C (hg19) ; chr3:g.87264266G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87264266G>C , CM000665.2:g.87264266G>C	GRCh38
NC_000003.11:g.87313416G>C , CM000665.1:g.87313416G>C	GRCh37
NC_000003.10:g.87396106G>C	NCBI36
NG_008225.2:g.17322C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.517+22C>G	ENSP00000342931.3:n.517+22C>G
ENST00000350375.7:c.439+22C>G MANE Select	ENSP00000263781.2:n.439+22C>G
ENST00000344265.7:c.517+22C>G	ENSP00000342931.3:n.517+22C>G
ENST00000350375.6:c.439+22C>G	ENSP00000263781.2:n.439+22C>G
ENST00000560656.1:c.439+22C>G	ENSP00000452610.1:n.439+22C>G
ENST00000561167.5:c.215-2031C>G	ENSP00000454072.1:n.215-2031C>G
NM_000306.3:c.439+22C>G	NP_000297.1:n.439+22C>G
NM_001122757.2:c.517+22C>G	NP_001116229.1:n.517+22C>G
NM_000306.4:c.439+22C>G MANE Select	NP_000297.1:n.439+22C>G
NM_001122757.3:c.517+22C>G	NP_001116229.1:n.517+22C>G