Canonical Allele Identifier: CA2501078
Gene: POU1F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3216881
ClinVar RCV Id: RCV004514744
dbSNP Id: rs773224032
gnomAD v2: 3-87309142-C-T
gnomAD v3: 3-87259992-C-T
gnomAD v4: 3-87259992-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259992C>T , CM000665.2:g.87259992C>T GRCh38
NC_000003.11:g.87309142C>T , CM000665.1:g.87309142C>T GRCh37
NC_000003.10:g.87391832C>T NCBI36
NG_008225.2:g.21596G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.856G>A ENSP00000342931.3:p.Val286Ile
ENST00000350375.7:c.778G>A MANE Select ENSP00000263781.2:p.Val260Ile
ENST00000344265.7:c.856G>A ENSP00000342931.3:p.Val286Ile
ENST00000350375.6:c.778G>A ENSP00000263781.2:p.Val260Ile
ENST00000560656.1:c.552G>A ENSP00000452610.1:n.552G>A
ENST00000561167.5:c.553G>A ENSP00000454072.1:p.Val185Ile
NM_000306.3:c.778G>A NP_000297.1:p.Val260Ile
NM_001122757.2:c.856G>A NP_001116229.1:p.Val286Ile
NM_000306.4:c.778G>A MANE Select NP_000297.1:p.Val260Ile
NM_001122757.3:c.856G>A NP_001116229.1:p.Val286Ile