Canonical Allele Identifier: CA2573055416
Gene: POU3F4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1185660
ClinVar RCV Id: RCV001823269
dbSNP Id: rs2147996672
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83508933_83508934del , CM000685.2:g.83508933_83508934del GRCh38
NC_000023.10:g.82763941_82763942del , CM000685.1:g.82763941_82763942del GRCh37
NC_000023.9:g.82650597_82650598del NCBI36
NG_009936.2:g.5673_5674del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644024.2:c.609_610del MANE Select ENSP00000495996.1:p.Arg204LysfsTer21
ENST00000373200.4:c.609_610del ENSP00000362296.2:p.Arg204LysfsTer21
NM_000307.4:c.609_610del NP_000298.3:p.Arg204LysfsTer21
NM_000307.5:c.609_610del MANE Select NP_000298.3:p.Arg204LysfsTer21
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