Canonical Allele Identifier: CA412949020

Gene: FOXP3

Linked Data

• MyVariant Identifiers: chrX:g.49108217C>T (hg19) ; chrX:g.49251756C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49251756C>T , CM000685.2:g.49251756C>T	GRCh38
NC_000023.10:g.49108217C>T , CM000685.1:g.49108217C>T	GRCh37
NC_000023.9:g.48995161C>T	NCBI36
NG_007392.1:g.18072G>A , LRG_62:g.18072G>A
NG_021311.2:g.21292C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376199.7:c.949G>A	ENSP00000365372.2:p.Glu317Lys
ENST00000376207.10:c.1054G>A MANE Select	ENSP00000365380.4:p.Glu352Lys
ENST00000455775.7:c.1123G>A	ENSP00000396415.3:p.Glu375Lys
ENST00000518685.6:c.973G>A	ENSP00000428952.2:p.Glu325Lys
ENST00000557224.6:c.949G>A	ENSP00000451208.1:p.Glu317Lys
ENST00000651307.1:c.977G>A	ENSP00000498454.1:p.Gly326Glu
ENST00000376197.1:c.904G>A	ENSP00000365369.1:p.Glu302Lys
ENST00000376199.6:c.949G>A	ENSP00000365372.2:p.Glu317Lys
ENST00000376207.8:c.1054G>A	ENSP00000365380.4:p.Glu352Lys
ENST00000455775.6:c.1123G>A	ENSP00000396415.3:p.Glu375Lys
ENST00000518685.5:c.949G>A	ENSP00000428952.1:p.Glu317Lys
ENST00000557224.5:c.949G>A	ENSP00000451208.1:p.Glu317Lys
NM_001114377.1:c.949G>A	NP_001107849.1:p.Glu317Lys
NM_014009.3:c.1054G>A , LRG_62t1:c.1054G>A	NP_054728.2:p.Glu352Lys
XM_006724533.2:c.1123G>A	XP_006724596.2:p.Glu375Lys
XM_011543915.1:c.1273G>A	XP_011542217.1:p.Glu425Lys
XM_011543916.1:c.1273G>A	XP_011542218.1:p.Glu425Lys
XM_011543917.1:c.1072G>A	XP_011542219.1:p.Glu358Lys
XM_011543918.1:c.1309G>A	XP_011542220.1:p.Glu437Lys
XM_011543919.1:c.1273G>A	XP_011542221.1:p.Glu425Lys
XM_017029567.1:c.1000G>A	XP_016885056.1:p.Glu334Lys
NM_001114377.2:c.949G>A	NP_001107849.1:p.Glu317Lys
NM_014009.4:c.1054G>A MANE Select	NP_054728.2:p.Glu352Lys