Canonical Allele Identifier: CA10411687

Gene: FOXP3

Linked Data

• dbSNP Id: rs782591493
• ExAC: X:49109636 T / C
• gnomAD v2: X-49109636-T-C
• gnomAD v4: X-49253175-T-C
• MyVariant Identifiers: chrX:g.49109636T>C (hg19) ; chrX:g.49253175T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49253175T>C , CM000685.2:g.49253175T>C	GRCh38
NC_000023.10:g.49109636T>C , CM000685.1:g.49109636T>C	GRCh37
NC_000023.9:g.48996580T>C	NCBI36
NG_007392.1:g.16653A>G , LRG_62:g.16653A>G
NG_021311.2:g.22711T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376199.7:c.890A>G	ENSP00000365372.2:p.Lys297Arg
ENST00000376207.10:c.995A>G MANE Select	ENSP00000365380.4:p.Lys332Arg
ENST00000455775.7:c.1064A>G	ENSP00000396415.3:p.Lys355Arg
ENST00000518685.6:c.914A>G	ENSP00000428952.2:p.Lys305Arg
ENST00000557224.6:c.890A>G	ENSP00000451208.1:p.Lys297Arg
ENST00000651307.1:c.967+742A>G	ENSP00000498454.1:n.967+742A>G
ENST00000376197.1:c.845A>G	ENSP00000365369.1:p.Lys282Arg
ENST00000376199.6:c.890A>G	ENSP00000365372.2:p.Lys297Arg
ENST00000376207.8:c.995A>G	ENSP00000365380.4:p.Lys332Arg
ENST00000455775.6:c.1064A>G	ENSP00000396415.3:p.Lys355Arg
ENST00000518685.5:c.890A>G	ENSP00000428952.1:p.Lys297Arg
ENST00000557224.5:c.890A>G	ENSP00000451208.1:p.Lys297Arg
NM_001114377.1:c.890A>G	NP_001107849.1:p.Lys297Arg
NM_014009.3:c.995A>G , LRG_62t1:c.995A>G	NP_054728.2:p.Lys332Arg
XM_006724533.2:c.1064A>G	XP_006724596.2:p.Lys355Arg
XM_011543915.1:c.1214A>G	XP_011542217.1:p.Lys405Arg
XM_011543916.1:c.1214A>G	XP_011542218.1:p.Lys405Arg
XM_011543917.1:c.1013A>G	XP_011542219.1:p.Lys338Arg
XM_011543918.1:c.1250A>G	XP_011542220.1:p.Lys417Arg
XM_011543919.1:c.1214A>G	XP_011542221.1:p.Lys405Arg
XM_017029567.1:c.941A>G	XP_016885056.1:p.Lys314Arg
NM_001114377.2:c.890A>G	NP_001107849.1:p.Lys297Arg
NM_014009.4:c.995A>G MANE Select	NP_054728.2:p.Lys332Arg