Canonical Allele Identifier: CA544800881
Gene: POU1F1 HGNC NCBI

Linked Data

dbSNP Id: rs1248488672
gnomAD v2: 3-87308830-A-G
gnomAD v3: 3-87259680-A-G
gnomAD v4: 3-87259680-A-G
MyVariant Identifiers: chr3:g.87308830A>G (hg19) chr3:g.87259680A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259680A>G , CM000665.2:g.87259680A>G GRCh38
NC_000003.11:g.87308830A>G , CM000665.1:g.87308830A>G GRCh37
NC_000003.10:g.87391520A>G NCBI36
NG_008225.2:g.21908T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.*214T>C ENSP00000342931.3:n.*214T>C
ENST00000350375.7:c.*214T>C MANE Select ENSP00000263781.2:n.*214T>C
ENST00000350375.6:c.*214T>C ENSP00000263781.2:n.*214T>C
NM_000306.3:c.*214T>C NP_000297.1:n.*214T>C
NM_001122757.2:c.*214T>C NP_001116229.1:n.*214T>C
NM_000306.4:c.*214T>C MANE Select NP_000297.1:n.*214T>C
NM_001122757.3:c.*214T>C NP_001116229.1:n.*214T>C
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