Canonical Allele Identifier: CA250624
Gene: POU1F1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.87260082C>T
GRCh37 chr3:g.87309232C>T
Revel Score:
ENST00000350375 (MANE Select) 0.946
ENST00000344265 0.946
gnomAD v2:
3:87309232 C / T
gnomAD v3:
3:87260082 C / T
gnomAD v4:
chr3-87260082-C-T
Joint Max Group AF 0.00000689 (NFE)
Exomes Max Group AF 0.00000652 (NFE)
ClinVar Allele:
28652
ClinVar RCV:
RCV000014583
RCV003556019
ClinVar Variation:
13613
dbSNP:
104893764
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87260082C>T , CM000665.2:g.87260082C>T GRCh38
NC_000003.11:g.87309232C>T , CM000665.1:g.87309232C>T GRCh37
NC_000003.10:g.87391922C>T NCBI36
NG_008225.2:g.21506G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.766G>A ENSP00000342931.3:p.Glu256Lys
ENST00000350375.7:c.688G>A MANE Select ENSP00000263781.2:p.Glu230Lys
ENST00000344265.7:c.766G>A ENSP00000342931.3:p.Glu256Lys
ENST00000350375.6:c.688G>A ENSP00000263781.2:p.Glu230Lys
ENST00000560656.1:c.462G>A ENSP00000452610.1:p.Trp154Ter
ENST00000561167.5:c.463G>A ENSP00000454072.1:p.Glu155Lys
NM_000306.3:c.688G>A NP_000297.1:p.Glu230Lys
NM_001122757.2:c.766G>A NP_001116229.1:p.Glu256Lys
NM_000306.4:c.688G>A MANE Select NP_000297.1:p.Glu230Lys
NM_001122757.3:c.766G>A NP_001116229.1:p.Glu256Lys
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