Canonical Allele Identifier: CA250614
Gene: POU1F1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13608
ClinVar RCV Id: RCV000014578
dbSNP Id: rs104893761

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87264323A>C , CM000665.2:g.87264323A>C GRCh38
NC_000003.11:g.87313473A>C , CM000665.1:g.87313473A>C GRCh37
NC_000003.10:g.87396163A>C NCBI36
NG_008225.2:g.17265T>G

Transcript Alleles

HGVS Amino-acid change
NM_000306.3:c.404T>G VV NP_000297.1:p.Phe135Cys
NM_001122757.2:c.482T>G VV NP_001116229.1:p.Phe161Cys
ENST00000344265.7:c.482T>G ENSP00000342931.3:p.Phe161Cys
ENST00000350375.6:c.404T>G ENSP00000263781.2:p.Phe135Cys
ENST00000560656.1:n.404T>G ENSP00000452610.1:p.Phe135Cys
ENST00000561167.5:n.215-2088T>G ENSP00000454072.1:p.=