Canonical Allele Identifier: CA516397166

Gene: FOXP3

Linked Data

• gnomAD v4: X-49255486-C-A
• MyVariant Identifiers: chrX:g.49111947C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255486C>A , CM000685.2:g.49255486C>A	GRCh38
NC_000023.10:g.49111947C>A , CM000685.1:g.49111947C>A	GRCh37
NC_000023.9:g.48998891C>A	NCBI36
NG_007392.1:g.14342G>T , LRG_62:g.14342G>T
NG_021311.2:g.25022C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376199.7:c.654G>T	ENSP00000365372.2:p.Leu218=
ENST00000376207.10:c.759G>T MANE Select	ENSP00000365380.4:p.Leu253=
ENST00000455775.7:c.828G>T	ENSP00000396415.3:p.Leu276=
ENST00000518685.6:c.735+229G>T	ENSP00000428952.2:n.735+229G>T
ENST00000557224.6:c.654G>T	ENSP00000451208.1:p.Leu218=
ENST00000651307.1:c.759G>T	ENSP00000498454.1:p.Leu253=
ENST00000376197.1:c.609G>T	ENSP00000365369.1:p.Leu203=
ENST00000376199.6:c.654G>T	ENSP00000365372.2:p.Leu218=
ENST00000376207.8:c.759G>T	ENSP00000365380.4:p.Leu253=
ENST00000455775.6:c.828G>T	ENSP00000396415.3:p.Leu276=
ENST00000518685.5:c.654G>T	ENSP00000428952.1:p.Leu218=
ENST00000557224.5:c.654G>T	ENSP00000451208.1:p.Leu218=
NM_001114377.1:c.654G>T	NP_001107849.1:p.Leu218=
NM_014009.3:c.759G>T , LRG_62t1:c.759G>T	NP_054728.2:p.Leu253=
XM_006724533.2:c.828G>T	XP_006724596.2:p.Leu276=
XM_011543915.1:c.978G>T	XP_011542217.1:p.Leu326=
XM_011543916.1:c.978G>T	XP_011542218.1:p.Leu326=
XM_011543917.1:c.777G>T	XP_011542219.1:p.Leu259=
XM_011543918.1:c.1014G>T	XP_011542220.1:p.Leu338=
XM_011543919.1:c.978G>T	XP_011542221.1:p.Leu326=
XM_017029567.1:c.705G>T	XP_016885056.1:p.Leu235=
NM_001114377.2:c.654G>T	NP_001107849.1:p.Leu218=
NM_014009.4:c.759G>T MANE Select	NP_054728.2:p.Leu253=