Canonical Allele Identifier: CA413751343

Gene: POU3F4

Linked Data

• gnomAD v4: X-83508671-C-G
• MyVariant Identifiers: chrX:g.82763679C>G (hg19) ; chrX:g.83508671C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.83508671C>G , CM000685.2:g.83508671C>G	GRCh38
NC_000023.10:g.82763679C>G , CM000685.1:g.82763679C>G	GRCh37
NC_000023.9:g.82650335C>G	NCBI36
NG_009936.2:g.5411C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644024.2:c.347C>G MANE Select	ENSP00000495996.1:p.Ala116Gly
ENST00000373200.4:c.347C>G	ENSP00000362296.2:p.Ala116Gly
NM_000307.4:c.347C>G	NP_000298.3:p.Ala116Gly
NM_000307.5:c.347C>G MANE Select	NP_000298.3:p.Ala116Gly