Canonical Allele Identifier: CA250626
Gene: POU1F1 HGNC NCBI
ClinVar RCV:
RCV000014584
RCV000521929
RCV003323359
ClinVar Variation:
13614
COSMIC:
COSM5400058
COSM5400059
dbSNP:
104893765
gnomAD v2:
3:87311310 C / T
gnomAD v4:
chr3-87262160-C-T
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
MyVariant.info:
GRCh38 chr3:g.87262160C>T
GRCh37 chr3:g.87311310C>T
Revel Score:
ENST00000350375 (MANE Select) 0.839
ENST00000344265 0.839
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87262160C>T , CM000665.2:g.87262160C>T GRCh38
NC_000003.11:g.87311310C>T , CM000665.1:g.87311310C>T GRCh37
NC_000003.10:g.87394000C>T NCBI36
NG_008225.2:g.19428G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.593G>A ENSP00000342931.3:p.Arg198Gln
ENST00000350375.7:c.515G>A MANE Select ENSP00000263781.2:p.Arg172Gln
ENST00000344265.7:c.593G>A ENSP00000342931.3:p.Arg198Gln
ENST00000350375.6:c.515G>A ENSP00000263781.2:p.Arg172Gln
ENST00000560656.1:c.440-2056G>A ENSP00000452610.1:n.440-2056G>A
ENST00000561167.5:c.290G>A ENSP00000454072.1:p.Arg97Gln
NM_000306.3:c.515G>A NP_000297.1:p.Arg172Gln
NM_001122757.2:c.593G>A NP_001116229.1:p.Arg198Gln
NM_000306.4:c.515G>A MANE Select NP_000297.1:p.Arg172Gln
NM_001122757.3:c.593G>A NP_001116229.1:p.Arg198Gln
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