Canonical Allele Identifier: CA177647
Gene: POU3F4 HGNC NCBI

Linked Data

ClinVar Variation Id: 164973
ClinVar RCV Id: RCV000151667
dbSNP Id: rs727503376
ExAC: X:82763815 C / A
gnomAD v2: X-82763815-C-A
gnomAD v3: X-83508807-C-A
gnomAD v4: X-83508807-C-A
MyVariant Identifiers: chrX:g.82763815C>A (hg19) chrX:g.83508807C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83508807C>A , CM000685.2:g.83508807C>A GRCh38
NC_000023.10:g.82763815C>A , CM000685.1:g.82763815C>A GRCh37
NC_000023.9:g.82650471C>A NCBI36
NG_009936.2:g.5547C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644024.2:c.483C>A MANE Select ENSP00000495996.1:p.Ser161Arg
ENST00000373200.4:c.483C>A ENSP00000362296.2:p.Ser161Arg
NM_000307.4:c.483C>A NP_000298.3:p.Ser161Arg
NM_000307.5:c.483C>A MANE Select NP_000298.3:p.Ser161Arg
Search 100 bp 5'
Search 100 bp 3'