Canonical Allele Identifier: CA10411663

Gene: FOXP3

Linked Data

• ClinVar Variation Id: 1354456
• ClinVar RCV Id: RCV001866434
• dbSNP Id: rs782443295
• ExAC: X:49108165 C / T
• gnomAD v2: X-49108165-C-T
• gnomAD v4: X-49251704-C-T
• MyVariant Identifiers: chrX:g.49108165C>T (hg19) ; chrX:g.49251704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49251704C>T , CM000685.2:g.49251704C>T	GRCh38
NC_000023.10:g.49108165C>T , CM000685.1:g.49108165C>T	GRCh37
NC_000023.9:g.48995109C>T	NCBI36
NG_007392.1:g.18124G>A , LRG_62:g.18124G>A
NG_021311.2:g.21240C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376199.7:c.1001G>A	ENSP00000365372.2:p.Arg334His
ENST00000376207.10:c.1106G>A MANE Select	ENSP00000365380.4:p.Arg369His
ENST00000455775.7:c.1175G>A	ENSP00000396415.3:p.Arg392His
ENST00000518685.6:c.1025G>A	ENSP00000428952.2:p.Arg342His
ENST00000557224.6:c.1001G>A	ENSP00000451208.1:p.Arg334His
ENST00000651307.1:c.*21G>A	ENSP00000498454.1:n.*21G>A
ENST00000376197.1:c.956G>A	ENSP00000365369.1:p.Arg319His
ENST00000376199.6:c.1001G>A	ENSP00000365372.2:p.Arg334His
ENST00000376207.8:c.1106G>A	ENSP00000365380.4:p.Arg369His
ENST00000455775.6:c.1175G>A	ENSP00000396415.3:p.Arg392His
ENST00000518685.5:c.1001G>A	ENSP00000428952.1:p.Arg334His
ENST00000557224.5:c.1001G>A	ENSP00000451208.1:p.Arg334His
NM_001114377.1:c.1001G>A	NP_001107849.1:p.Arg334His
NM_014009.3:c.1106G>A , LRG_62t1:c.1106G>A	NP_054728.2:p.Arg369His
XM_006724533.2:c.1175G>A	XP_006724596.2:p.Arg392His
XM_011543915.1:c.1325G>A	XP_011542217.1:p.Arg442His
XM_011543916.1:c.1325G>A	XP_011542218.1:p.Arg442His
XM_011543917.1:c.1124G>A	XP_011542219.1:p.Arg375His
XM_011543918.1:c.1361G>A	XP_011542220.1:p.Arg454His
XM_011543919.1:c.1325G>A	XP_011542221.1:p.Arg442His
XM_017029567.1:c.1052G>A	XP_016885056.1:p.Arg351His
NM_001114377.2:c.1001G>A	NP_001107849.1:p.Arg334His
NM_014009.4:c.1106G>A MANE Select	NP_054728.2:p.Arg369His