Canonical Allele Identifier: CA10616753
Gene: POU1F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 346833
ClinVar RCV Id: RCV000308985 RCV000337782 RCV001150054 RCV001643050
dbSNP Id: rs33936108
gnomAD v2: 3-87308904-T-A
gnomAD v3: 3-87259754-T-A
gnomAD v4: 3-87259754-T-A
MyVariant Identifiers: chr3:g.87308904T>A (hg19) chr3:g.87308904_87308905delinsAA (hg19) chr3:g.87259754T>A (hg38) chr3:g.87259754_87259755delinsAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259754T>A , CM000665.2:g.87259754T>A GRCh38
NC_000003.11:g.87308904T>A , CM000665.1:g.87308904T>A GRCh37
NC_000003.10:g.87391594T>A NCBI36
NG_008225.2:g.21834A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.*140A>T ENSP00000342931.3:n.*140A>T
ENST00000350375.7:c.*140A>T MANE Select ENSP00000263781.2:n.*140A>T
ENST00000344265.7:c.*140A>T ENSP00000342931.3:n.*140A>T
ENST00000350375.6:c.*140A>T ENSP00000263781.2:n.*140A>T
NM_000306.3:c.*140A>T NP_000297.1:n.*140A>T
NM_001122757.2:c.*140A>T NP_001116229.1:n.*140A>T
NM_000306.4:c.*140A>T MANE Select NP_000297.1:n.*140A>T
NM_001122757.3:c.*140A>T NP_001116229.1:n.*140A>T
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