Canonical Allele Identifier: CA517478736

Gene: POU3F4

Linked Data

• dbSNP Id: rs1317889246
• gnomAD v2: X-82763998-G-A
• gnomAD v4: X-83508990-G-A
• MyVariant Identifiers: chrX:g.82763998G>A (hg19) ; chrX:g.83508990G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.83508990G>A , CM000685.2:g.83508990G>A	GRCh38
NC_000023.10:g.82763998G>A , CM000685.1:g.82763998G>A	GRCh37
NC_000023.9:g.82650654G>A	NCBI36
NG_009936.2:g.5730G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644024.2:c.666G>A MANE Select	ENSP00000495996.1:p.Leu222=
ENST00000373200.4:c.666G>A	ENSP00000362296.2:p.Leu222=
NM_000307.4:c.666G>A	NP_000298.3:p.Leu222=
NM_000307.5:c.666G>A MANE Select	NP_000298.3:p.Leu222=