Canonical Allele Identifier: CA412948826

Gene: FOXP3

Linked Data

• MyVariant Identifiers: chrX:g.49108172A>C (hg19) ; chrX:g.49251711A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49251711A>C , CM000685.2:g.49251711A>C	GRCh38
NC_000023.10:g.49108172A>C , CM000685.1:g.49108172A>C	GRCh37
NC_000023.9:g.48995116A>C	NCBI36
NG_007392.1:g.18117T>G , LRG_62:g.18117T>G
NG_021311.2:g.21247A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376199.7:c.994T>G	ENSP00000365372.2:p.Phe332Val
ENST00000376207.10:c.1099T>G MANE Select	ENSP00000365380.4:p.Phe367Val
ENST00000455775.7:c.1168T>G	ENSP00000396415.3:p.Phe390Val
ENST00000518685.6:c.1018T>G	ENSP00000428952.2:p.Phe340Val
ENST00000557224.6:c.994T>G	ENSP00000451208.1:p.Phe332Val
ENST00000651307.1:c.*14T>G	ENSP00000498454.1:n.*14T>G
ENST00000376197.1:c.949T>G	ENSP00000365369.1:p.Phe317Val
ENST00000376199.6:c.994T>G	ENSP00000365372.2:p.Phe332Val
ENST00000376207.8:c.1099T>G	ENSP00000365380.4:p.Phe367Val
ENST00000455775.6:c.1168T>G	ENSP00000396415.3:p.Phe390Val
ENST00000518685.5:c.994T>G	ENSP00000428952.1:p.Phe332Val
ENST00000557224.5:c.994T>G	ENSP00000451208.1:p.Phe332Val
NM_001114377.1:c.994T>G	NP_001107849.1:p.Phe332Val
NM_014009.3:c.1099T>G , LRG_62t1:c.1099T>G	NP_054728.2:p.Phe367Val
XM_006724533.2:c.1168T>G	XP_006724596.2:p.Phe390Val
XM_011543915.1:c.1318T>G	XP_011542217.1:p.Phe440Val
XM_011543916.1:c.1318T>G	XP_011542218.1:p.Phe440Val
XM_011543917.1:c.1117T>G	XP_011542219.1:p.Phe373Val
XM_011543918.1:c.1354T>G	XP_011542220.1:p.Phe452Val
XM_011543919.1:c.1318T>G	XP_011542221.1:p.Phe440Val
XM_017029567.1:c.1045T>G	XP_016885056.1:p.Phe349Val
NM_001114377.2:c.994T>G	NP_001107849.1:p.Phe332Val
NM_014009.4:c.1099T>G MANE Select	NP_054728.2:p.Phe367Val