Canonical Allele Identifier: CA412950868

Gene: FOXP3

Linked Data

• gnomAD v4: X-49255436-G-A
• MyVariant Identifiers: chrX:g.49111897G>A (hg19) ; chrX:g.49255436G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255436G>A , CM000685.2:g.49255436G>A	GRCh38
NC_000023.10:g.49111897G>A , CM000685.1:g.49111897G>A	GRCh37
NC_000023.9:g.48998841G>A	NCBI36
NG_007392.1:g.14392C>T , LRG_62:g.14392C>T
NG_021311.2:g.24972G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376199.7:c.704C>T	ENSP00000365372.2:p.Ser235Leu
ENST00000376207.10:c.809C>T MANE Select	ENSP00000365380.4:p.Ser270Leu
ENST00000455775.7:c.878C>T	ENSP00000396415.3:p.Ser293Leu
ENST00000518685.6:c.735+279C>T	ENSP00000428952.2:n.735+279C>T
ENST00000557224.6:c.704C>T	ENSP00000451208.1:p.Ser235Leu
ENST00000651307.1:c.809C>T	ENSP00000498454.1:p.Ser270Leu
ENST00000376197.1:c.659C>T	ENSP00000365369.1:p.Ser220Leu
ENST00000376199.6:c.704C>T	ENSP00000365372.2:p.Ser235Leu
ENST00000376207.8:c.809C>T	ENSP00000365380.4:p.Ser270Leu
ENST00000455775.6:c.878C>T	ENSP00000396415.3:p.Ser293Leu
ENST00000518685.5:c.704C>T	ENSP00000428952.1:p.Ser235Leu
ENST00000557224.5:c.704C>T	ENSP00000451208.1:p.Ser235Leu
NM_001114377.1:c.704C>T	NP_001107849.1:p.Ser235Leu
NM_014009.3:c.809C>T , LRG_62t1:c.809C>T	NP_054728.2:p.Ser270Leu
XM_006724533.2:c.878C>T	XP_006724596.2:p.Ser293Leu
XM_011543915.1:c.1028C>T	XP_011542217.1:p.Ser343Leu
XM_011543916.1:c.1028C>T	XP_011542218.1:p.Ser343Leu
XM_011543917.1:c.827C>T	XP_011542219.1:p.Ser276Leu
XM_011543918.1:c.1064C>T	XP_011542220.1:p.Ser355Leu
XM_011543919.1:c.1028C>T	XP_011542221.1:p.Ser343Leu
XM_017029567.1:c.755C>T	XP_016885056.1:p.Ser252Leu
NM_001114377.2:c.704C>T	NP_001107849.1:p.Ser235Leu
NM_014009.4:c.809C>T MANE Select	NP_054728.2:p.Ser270Leu