Canonical Allele Identifier: CA79036655
Gene: POU1F1 HGNC NCBI

Linked Data

dbSNP Id: rs1000478058
gnomAD v2: 3-87311077-A-G
gnomAD v3: 3-87261927-A-G
gnomAD v4: 3-87261927-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87261927A>G , CM000665.2:g.87261927A>G GRCh38
NC_000003.11:g.87311077A>G , CM000665.1:g.87311077A>G GRCh37
NC_000003.10:g.87393767A>G NCBI36
NG_008225.2:g.19661T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.682+144T>C ENSP00000342931.3:n.682+144T>C
ENST00000350375.7:c.604+144T>C MANE Select ENSP00000263781.2:n.604+144T>C
ENST00000344265.7:c.682+144T>C ENSP00000342931.3:n.682+144T>C
ENST00000350375.6:c.604+144T>C ENSP00000263781.2:n.604+144T>C
ENST00000560656.1:c.440-1823T>C ENSP00000452610.1:n.440-1823T>C
ENST00000561167.5:c.379+144T>C ENSP00000454072.1:n.379+144T>C
NM_000306.3:c.604+144T>C NP_000297.1:n.604+144T>C
NM_001122757.2:c.682+144T>C NP_001116229.1:n.682+144T>C
NM_000306.4:c.604+144T>C MANE Select NP_000297.1:n.604+144T>C
NM_001122757.3:c.682+144T>C NP_001116229.1:n.682+144T>C