Canonical Allele Identifier: CA412950274

Gene: FOXP3

Linked Data

• ClinVar Variation Id: 1056681
• ClinVar RCV Id: RCV001365548
• dbSNP Id: rs2147945481
• gnomAD v4: X-49253172-A-T
• MyVariant Identifiers: chrX:g.49109633A>T (hg19) ; chrX:g.49253172A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49253172A>T , CM000685.2:g.49253172A>T	GRCh38
NC_000023.10:g.49109633A>T , CM000685.1:g.49109633A>T	GRCh37
NC_000023.9:g.48996577A>T	NCBI36
NG_007392.1:g.16656T>A , LRG_62:g.16656T>A
NG_021311.2:g.22708A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376199.7:c.893T>A	ENSP00000365372.2:p.Phe298Tyr
ENST00000376207.10:c.998T>A MANE Select	ENSP00000365380.4:p.Phe333Tyr
ENST00000455775.7:c.1067T>A	ENSP00000396415.3:p.Phe356Tyr
ENST00000518685.6:c.917T>A	ENSP00000428952.2:p.Phe306Tyr
ENST00000557224.6:c.893T>A	ENSP00000451208.1:p.Phe298Tyr
ENST00000651307.1:c.967+745T>A	ENSP00000498454.1:n.967+745T>A
ENST00000376197.1:c.848T>A	ENSP00000365369.1:p.Phe283Tyr
ENST00000376199.6:c.893T>A	ENSP00000365372.2:p.Phe298Tyr
ENST00000376207.8:c.998T>A	ENSP00000365380.4:p.Phe333Tyr
ENST00000455775.6:c.1067T>A	ENSP00000396415.3:p.Phe356Tyr
ENST00000518685.5:c.893T>A	ENSP00000428952.1:p.Phe298Tyr
ENST00000557224.5:c.893T>A	ENSP00000451208.1:p.Phe298Tyr
NM_001114377.1:c.893T>A	NP_001107849.1:p.Phe298Tyr
NM_014009.3:c.998T>A , LRG_62t1:c.998T>A	NP_054728.2:p.Phe333Tyr
XM_006724533.2:c.1067T>A	XP_006724596.2:p.Phe356Tyr
XM_011543915.1:c.1217T>A	XP_011542217.1:p.Phe406Tyr
XM_011543916.1:c.1217T>A	XP_011542218.1:p.Phe406Tyr
XM_011543917.1:c.1016T>A	XP_011542219.1:p.Phe339Tyr
XM_011543918.1:c.1253T>A	XP_011542220.1:p.Phe418Tyr
XM_011543919.1:c.1217T>A	XP_011542221.1:p.Phe406Tyr
XM_017029567.1:c.944T>A	XP_016885056.1:p.Phe315Tyr
NM_001114377.2:c.893T>A	NP_001107849.1:p.Phe298Tyr
NM_014009.4:c.998T>A MANE Select	NP_054728.2:p.Phe333Tyr