Canonical Allele Identifier: CA412950229

Gene: FOXP3

Linked Data

• dbSNP Id: rs2066044981
• gnomAD v3: X-49253164-T-A
• gnomAD v4: X-49253164-T-A
• MyVariant Identifiers: chrX:g.49109625T>A (hg19) ; chrX:g.49253164T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49253164T>A , CM000685.2:g.49253164T>A	GRCh38
NC_000023.10:g.49109625T>A , CM000685.1:g.49109625T>A	GRCh37
NC_000023.9:g.48996569T>A	NCBI36
NG_007392.1:g.16664A>T , LRG_62:g.16664A>T
NG_021311.2:g.22700T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376199.7:c.901A>T	ENSP00000365372.2:p.Met301Leu
ENST00000376207.10:c.1006A>T MANE Select	ENSP00000365380.4:p.Met336Leu
ENST00000455775.7:c.1075A>T	ENSP00000396415.3:p.Met359Leu
ENST00000518685.6:c.925A>T	ENSP00000428952.2:p.Met309Leu
ENST00000557224.6:c.901A>T	ENSP00000451208.1:p.Met301Leu
ENST00000651307.1:c.967+753A>T	ENSP00000498454.1:n.967+753A>T
ENST00000376197.1:c.856A>T	ENSP00000365369.1:p.Met286Leu
ENST00000376199.6:c.901A>T	ENSP00000365372.2:p.Met301Leu
ENST00000376207.8:c.1006A>T	ENSP00000365380.4:p.Met336Leu
ENST00000455775.6:c.1075A>T	ENSP00000396415.3:p.Met359Leu
ENST00000518685.5:c.901A>T	ENSP00000428952.1:p.Met301Leu
ENST00000557224.5:c.901A>T	ENSP00000451208.1:p.Met301Leu
NM_001114377.1:c.901A>T	NP_001107849.1:p.Met301Leu
NM_014009.3:c.1006A>T , LRG_62t1:c.1006A>T	NP_054728.2:p.Met336Leu
XM_006724533.2:c.1075A>T	XP_006724596.2:p.Met359Leu
XM_011543915.1:c.1225A>T	XP_011542217.1:p.Met409Leu
XM_011543916.1:c.1225A>T	XP_011542218.1:p.Met409Leu
XM_011543917.1:c.1024A>T	XP_011542219.1:p.Met342Leu
XM_011543918.1:c.1261A>T	XP_011542220.1:p.Met421Leu
XM_011543919.1:c.1225A>T	XP_011542221.1:p.Met409Leu
XM_017029567.1:c.952A>T	XP_016885056.1:p.Met318Leu
NM_001114377.2:c.901A>T	NP_001107849.1:p.Met301Leu
NM_014009.4:c.1006A>T MANE Select	NP_054728.2:p.Met336Leu