Canonical Allele Identifier: CA250619
Gene: POU1F1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13611
ClinVar RCV Id: RCV000014581
dbSNP Id: rs104893758

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87262098A>G , CM000665.2:g.87262098A>G GRCh38
NC_000003.10:g.87393938A>G NCBI36
NC_000003.11:g.87311248A>G , CM000665.1:g.87311248A>G GRCh37
NG_008225.2:g.19490T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000344265.7:c.655T>C ENSP00000342931.3:p.Trp219Arg
ENST00000350375.6:c.577T>C ENSP00000263781.2:p.Trp193Arg
ENST00000560656.1:n.440-1994T>C ENSP00000452610.1:p.=
ENST00000561167.5:n.352T>C ENSP00000454072.1:p.Trp118Arg
NM_000306.3:c.577T>C VV NP_000297.1:p.Trp193Arg
NM_001122757.2:c.655T>C VV NP_001116229.1:p.Trp219Arg