Canonical Allele Identifier: CA10619668
Gene: POU1F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 346828
ClinVar RCV Id: RCV000340521 RCV001150053
dbSNP Id: rs771316195
gnomAD v2: 3-87308799-T-C
gnomAD v3: 3-87259649-T-C
gnomAD v4: 3-87259649-T-C
MyVariant Identifiers: chr3:g.87308799T>C (hg19) chr3:g.87259649T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259649T>C , CM000665.2:g.87259649T>C GRCh38
NC_000003.11:g.87308799T>C , CM000665.1:g.87308799T>C GRCh37
NC_000003.10:g.87391489T>C NCBI36
NG_008225.2:g.21939A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.*245A>G ENSP00000342931.3:n.*245A>G
ENST00000350375.7:c.*245A>G MANE Select ENSP00000263781.2:n.*245A>G
ENST00000350375.6:c.*245A>G ENSP00000263781.2:n.*245A>G
NM_000306.3:c.*245A>G NP_000297.1:n.*245A>G
NM_001122757.2:c.*245A>G NP_001116229.1:n.*245A>G
NM_000306.4:c.*245A>G MANE Select NP_000297.1:n.*245A>G
NM_001122757.3:c.*245A>G NP_001116229.1:n.*245A>G
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