Canonical Allele Identifier: CA2666629720
Gene: POU1F1 HGNC NCBI

Linked Data

gnomAD v4: 3-87262045-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87262045C>G , CM000665.2:g.87262045C>G GRCh38
NC_000003.11:g.87311195C>G , CM000665.1:g.87311195C>G GRCh37
NC_000003.10:g.87393885C>G NCBI36
NG_008225.2:g.19543G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.682+26G>C ENSP00000342931.3:n.682+26G>C
ENST00000350375.7:c.604+26G>C MANE Select ENSP00000263781.2:n.604+26G>C
ENST00000344265.7:c.682+26G>C ENSP00000342931.3:n.682+26G>C
ENST00000350375.6:c.604+26G>C ENSP00000263781.2:n.604+26G>C
ENST00000560656.1:c.440-1941G>C ENSP00000452610.1:n.440-1941G>C
ENST00000561167.5:c.379+26G>C ENSP00000454072.1:n.379+26G>C
NM_000306.3:c.604+26G>C NP_000297.1:n.604+26G>C
NM_001122757.2:c.682+26G>C NP_001116229.1:n.682+26G>C
NM_000306.4:c.604+26G>C MANE Select NP_000297.1:n.604+26G>C
NM_001122757.3:c.682+26G>C NP_001116229.1:n.682+26G>C