Canonical Allele Identifier: CA412950890

Gene: FOXP3

Linked Data

• dbSNP Id: rs1557116153
• gnomAD v2: X-49111907-T-A
• gnomAD v4: X-49255446-T-A
• MyVariant Identifiers: chrX:g.49111907T>A (hg19) ; chrX:g.49255446T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255446T>A , CM000685.2:g.49255446T>A	GRCh38
NC_000023.10:g.49111907T>A , CM000685.1:g.49111907T>A	GRCh37
NC_000023.9:g.48998851T>A	NCBI36
NG_007392.1:g.14382A>T , LRG_62:g.14382A>T
NG_021311.2:g.24982T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376199.7:c.694A>T	ENSP00000365372.2:p.Thr232Ser
ENST00000376207.10:c.799A>T MANE Select	ENSP00000365380.4:p.Thr267Ser
ENST00000455775.7:c.868A>T	ENSP00000396415.3:p.Thr290Ser
ENST00000518685.6:c.735+269A>T	ENSP00000428952.2:n.735+269A>T
ENST00000557224.6:c.694A>T	ENSP00000451208.1:p.Thr232Ser
ENST00000651307.1:c.799A>T	ENSP00000498454.1:p.Thr267Ser
ENST00000376197.1:c.649A>T	ENSP00000365369.1:p.Thr217Ser
ENST00000376199.6:c.694A>T	ENSP00000365372.2:p.Thr232Ser
ENST00000376207.8:c.799A>T	ENSP00000365380.4:p.Thr267Ser
ENST00000455775.6:c.868A>T	ENSP00000396415.3:p.Thr290Ser
ENST00000518685.5:c.694A>T	ENSP00000428952.1:p.Thr232Ser
ENST00000557224.5:c.694A>T	ENSP00000451208.1:p.Thr232Ser
NM_001114377.1:c.694A>T	NP_001107849.1:p.Thr232Ser
NM_014009.3:c.799A>T , LRG_62t1:c.799A>T	NP_054728.2:p.Thr267Ser
XM_006724533.2:c.868A>T	XP_006724596.2:p.Thr290Ser
XM_011543915.1:c.1018A>T	XP_011542217.1:p.Thr340Ser
XM_011543916.1:c.1018A>T	XP_011542218.1:p.Thr340Ser
XM_011543917.1:c.817A>T	XP_011542219.1:p.Thr273Ser
XM_011543918.1:c.1054A>T	XP_011542220.1:p.Thr352Ser
XM_011543919.1:c.1018A>T	XP_011542221.1:p.Thr340Ser
XM_017029567.1:c.745A>T	XP_016885056.1:p.Thr249Ser
NM_001114377.2:c.694A>T	NP_001107849.1:p.Thr232Ser
NM_014009.4:c.799A>T MANE Select	NP_054728.2:p.Thr267Ser