Canonical Allele Identifier: CA2666629854
Gene: POU1F1 HGNC NCBI

Linked Data

gnomAD v4: 3-87264198-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87264198T>G , CM000665.2:g.87264198T>G GRCh38
NC_000003.11:g.87313348T>G , CM000665.1:g.87313348T>G GRCh37
NC_000003.10:g.87396038T>G NCBI36
NG_008225.2:g.17390A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.517+90A>C ENSP00000342931.3:n.517+90A>C
ENST00000350375.7:c.439+90A>C MANE Select ENSP00000263781.2:n.439+90A>C
ENST00000344265.7:c.517+90A>C ENSP00000342931.3:n.517+90A>C
ENST00000350375.6:c.439+90A>C ENSP00000263781.2:n.439+90A>C
ENST00000560656.1:c.439+90A>C ENSP00000452610.1:n.439+90A>C
ENST00000561167.5:c.215-1963A>C ENSP00000454072.1:n.215-1963A>C
NM_000306.3:c.439+90A>C NP_000297.1:n.439+90A>C
NM_001122757.2:c.517+90A>C NP_001116229.1:n.517+90A>C
NM_000306.4:c.439+90A>C MANE Select NP_000297.1:n.439+90A>C
NM_001122757.3:c.517+90A>C NP_001116229.1:n.517+90A>C
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