Canonical Allele Identifier: CA413751651
Gene: POU3F4 HGNC NCBI

Linked Data

dbSNP Id: rs1333852496
gnomAD v2: X-82763828-C-T
gnomAD v4: X-83508820-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83508820C>T , CM000685.2:g.83508820C>T GRCh38
NC_000023.10:g.82763828C>T , CM000685.1:g.82763828C>T GRCh37
NC_000023.9:g.82650484C>T NCBI36
NG_009936.2:g.5560C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644024.2:c.496C>T MANE Select ENSP00000495996.1:p.Leu166Phe
ENST00000373200.4:c.496C>T ENSP00000362296.2:p.Leu166Phe
NM_000307.4:c.496C>T NP_000298.3:p.Leu166Phe
NM_000307.5:c.496C>T MANE Select NP_000298.3:p.Leu166Phe