Canonical Allele Identifier: CA517478376
Gene: POU3F4 HGNC NCBI

Linked Data

gnomAD v4: X-83508717-C-A
COSMIC: COSM1469632 COSM1469633
MyVariant Identifiers: chrX:g.82763725C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83508717C>A , CM000685.2:g.83508717C>A GRCh38
NC_000023.10:g.82763725C>A , CM000685.1:g.82763725C>A GRCh37
NC_000023.9:g.82650381C>A NCBI36
NG_009936.2:g.5457C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644024.2:c.393C>A MANE Select ENSP00000495996.1:p.Leu131=
ENST00000373200.4:c.393C>A ENSP00000362296.2:p.Leu131=
NM_000307.4:c.393C>A NP_000298.3:p.Leu131=
NM_000307.5:c.393C>A MANE Select NP_000298.3:p.Leu131=
Search 100 bp 5'
Search 100 bp 3'