Canonical Allele Identifier: CA412951030

Gene: FOXP3

Linked Data

• gnomAD v4: X-49255506-C-T
• MyVariant Identifiers: chrX:g.49111967C>T (hg19) ; chrX:g.49255506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255506C>T , CM000685.2:g.49255506C>T	GRCh38
NC_000023.10:g.49111967C>T , CM000685.1:g.49111967C>T	GRCh37
NC_000023.9:g.48998911C>T	NCBI36
NG_007392.1:g.14322G>A , LRG_62:g.14322G>A
NG_021311.2:g.25042C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376199.7:c.634G>A	ENSP00000365372.2:p.Val212Met
ENST00000376207.10:c.739G>A MANE Select	ENSP00000365380.4:p.Val247Met
ENST00000455775.7:c.808G>A	ENSP00000396415.3:p.Val270Met
ENST00000518685.6:c.735+209G>A	ENSP00000428952.2:n.735+209G>A
ENST00000557224.6:c.634G>A	ENSP00000451208.1:p.Val212Met
ENST00000651307.1:c.739G>A	ENSP00000498454.1:p.Val247Met
ENST00000376197.1:c.589G>A	ENSP00000365369.1:p.Val197Met
ENST00000376199.6:c.634G>A	ENSP00000365372.2:p.Val212Met
ENST00000376207.8:c.739G>A	ENSP00000365380.4:p.Val247Met
ENST00000455775.6:c.808G>A	ENSP00000396415.3:p.Val270Met
ENST00000518685.5:c.634G>A	ENSP00000428952.1:p.Val212Met
ENST00000557224.5:c.634G>A	ENSP00000451208.1:p.Val212Met
NM_001114377.1:c.634G>A	NP_001107849.1:p.Val212Met
NM_014009.3:c.739G>A , LRG_62t1:c.739G>A	NP_054728.2:p.Val247Met
XM_006724533.2:c.808G>A	XP_006724596.2:p.Val270Met
XM_011543915.1:c.958G>A	XP_011542217.1:p.Val320Met
XM_011543916.1:c.958G>A	XP_011542218.1:p.Val320Met
XM_011543917.1:c.757G>A	XP_011542219.1:p.Val253Met
XM_011543918.1:c.994G>A	XP_011542220.1:p.Val332Met
XM_011543919.1:c.958G>A	XP_011542221.1:p.Val320Met
XM_017029567.1:c.685G>A	XP_016885056.1:p.Val229Met
NM_001114377.2:c.634G>A	NP_001107849.1:p.Val212Met
NM_014009.4:c.739G>A MANE Select	NP_054728.2:p.Val247Met