Canonical Allele Identifier: CA544784558
Gene: POU1F1 HGNC NCBI

Linked Data

dbSNP Id: rs1187798796
gnomAD v2: 3-87311057-G-T
gnomAD v3: 3-87261907-G-T
gnomAD v4: 3-87261907-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87261907G>T , CM000665.2:g.87261907G>T GRCh38
NC_000003.11:g.87311057G>T , CM000665.1:g.87311057G>T GRCh37
NC_000003.10:g.87393747G>T NCBI36
NG_008225.2:g.19681C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.682+164C>A ENSP00000342931.3:n.682+164C>A
ENST00000350375.7:c.604+164C>A MANE Select ENSP00000263781.2:n.604+164C>A
ENST00000344265.7:c.682+164C>A ENSP00000342931.3:n.682+164C>A
ENST00000350375.6:c.604+164C>A ENSP00000263781.2:n.604+164C>A
ENST00000560656.1:c.440-1803C>A ENSP00000452610.1:n.440-1803C>A
ENST00000561167.5:c.379+164C>A ENSP00000454072.1:n.379+164C>A
NM_000306.3:c.604+164C>A NP_000297.1:n.604+164C>A
NM_001122757.2:c.682+164C>A NP_001116229.1:n.682+164C>A
NM_000306.4:c.604+164C>A MANE Select NP_000297.1:n.604+164C>A
NM_001122757.3:c.682+164C>A NP_001116229.1:n.682+164C>A