Canonical Allele Identifier: CA10462801

Gene: POU3F4

Linked Data

• ClinVar Variation Id: 368732
• ClinVar RCV Id: RCV000372706 ; RCV000825816
• dbSNP Id: rs779713849
• ExAC: X:82764085 G / A
• gnomAD v2: X-82764085-G-A
• gnomAD v3: X-83509077-G-A
• gnomAD v4: X-83509077-G-A
• MyVariant Identifiers: chrX:g.82764085G>A (hg19) ; chrX:g.83509077G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.83509077G>A , CM000685.2:g.83509077G>A	GRCh38
NC_000023.10:g.82764085G>A , CM000685.1:g.82764085G>A	GRCh37
NC_000023.9:g.82650741G>A	NCBI36
NG_009936.2:g.5817G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644024.2:c.753G>A MANE Select	ENSP00000495996.1:p.Leu251=
ENST00000373200.4:c.753G>A	ENSP00000362296.2:p.Leu251=
NM_000307.4:c.753G>A	NP_000298.3:p.Leu251=
NM_000307.5:c.753G>A MANE Select	NP_000298.3:p.Leu251=