Canonical Allele Identifier: CA517478405

Gene: POU3F4

Linked Data

• dbSNP Id: rs1378795547
• gnomAD v2: X-82763954-T-C
• gnomAD v4: X-83508946-T-C
• MyVariant Identifiers: chrX:g.82763954T>C (hg19) ; chrX:g.83508946T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.83508946T>C , CM000685.2:g.83508946T>C	GRCh38
NC_000023.10:g.82763954T>C , CM000685.1:g.82763954T>C	GRCh37
NC_000023.9:g.82650610T>C	NCBI36
NG_009936.2:g.5686T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644024.2:c.622T>C MANE Select	ENSP00000495996.1:p.Leu208=
ENST00000373200.4:c.622T>C	ENSP00000362296.2:p.Leu208=
NM_000307.4:c.622T>C	NP_000298.3:p.Leu208=
NM_000307.5:c.622T>C MANE Select	NP_000298.3:p.Leu208=