Canonical Allele Identifier: CA10411753

Gene: FOXP3

Linked Data

• dbSNP Id: rs782370755
• ExAC: X:49112194 T / C
• gnomAD v2: X-49112194-T-C
• gnomAD v3: X-49255733-T-C
• gnomAD v4: X-49255733-T-C
• MyVariant Identifiers: chrX:g.49112194T>C (hg19) ; chrX:g.49255733T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255733T>C , CM000685.2:g.49255733T>C	GRCh38
NC_000023.10:g.49112194T>C , CM000685.1:g.49112194T>C	GRCh37
NC_000023.9:g.48999138T>C	NCBI36
NG_007392.1:g.14095A>G , LRG_62:g.14095A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376199.7:c.612A>G	ENSP00000365372.2:p.Val204=
ENST00000376207.10:c.717A>G MANE Select	ENSP00000365380.4:p.Val239=
ENST00000455775.7:c.786A>G	ENSP00000396415.3:p.Val262=
ENST00000518685.6:c.717A>G	ENSP00000428952.2:p.Val239=
ENST00000557224.6:c.612A>G	ENSP00000451208.1:p.Val204=
ENST00000651307.1:c.717A>G	ENSP00000498454.1:p.Val239=
ENST00000376197.1:c.567A>G	ENSP00000365369.1:p.Val189=
ENST00000376199.6:c.612A>G	ENSP00000365372.2:p.Val204=
ENST00000376207.8:c.717A>G	ENSP00000365380.4:p.Val239=
ENST00000455775.6:c.786A>G	ENSP00000396415.3:p.Val262=
ENST00000518685.5:c.612A>G	ENSP00000428952.1:p.Val204=
ENST00000557224.5:c.612A>G	ENSP00000451208.1:p.Val204=
NM_001114377.1:c.612A>G	NP_001107849.1:p.Val204=
NM_014009.3:c.717A>G , LRG_62t1:c.717A>G	NP_054728.2:p.Val239=
XM_006724533.2:c.786A>G	XP_006724596.2:p.Val262=
XM_011543915.1:c.936A>G	XP_011542217.1:p.Val312=
XM_011543916.1:c.936A>G	XP_011542218.1:p.Val312=
XM_011543917.1:c.735A>G	XP_011542219.1:p.Val245=
XM_011543918.1:c.972A>G	XP_011542220.1:p.Val324=
XM_011543919.1:c.936A>G	XP_011542221.1:p.Val312=
XM_017029567.1:c.663A>G	XP_016885056.1:p.Val221=
NM_001114377.2:c.612A>G	NP_001107849.1:p.Val204=
NM_014009.4:c.717A>G MANE Select	NP_054728.2:p.Val239=