Canonical Allele Identifier: CA412950937

Gene: FOXP3

Linked Data

• MyVariant Identifiers: chrX:g.49111928G>C (hg19) ; chrX:g.49255467G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255467G>C , CM000685.2:g.49255467G>C	GRCh38
NC_000023.10:g.49111928G>C , CM000685.1:g.49111928G>C	GRCh37
NC_000023.9:g.48998872G>C	NCBI36
NG_007392.1:g.14361C>G , LRG_62:g.14361C>G
NG_021311.2:g.25003G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376199.7:c.673C>G	ENSP00000365372.2:p.Leu225Val
ENST00000376207.10:c.778C>G MANE Select	ENSP00000365380.4:p.Leu260Val
ENST00000455775.7:c.847C>G	ENSP00000396415.3:p.Leu283Val
ENST00000518685.6:c.735+248C>G	ENSP00000428952.2:n.735+248C>G
ENST00000557224.6:c.673C>G	ENSP00000451208.1:p.Leu225Val
ENST00000651307.1:c.778C>G	ENSP00000498454.1:p.Leu260Val
ENST00000376197.1:c.628C>G	ENSP00000365369.1:p.Leu210Val
ENST00000376199.6:c.673C>G	ENSP00000365372.2:p.Leu225Val
ENST00000376207.8:c.778C>G	ENSP00000365380.4:p.Leu260Val
ENST00000455775.6:c.847C>G	ENSP00000396415.3:p.Leu283Val
ENST00000518685.5:c.673C>G	ENSP00000428952.1:p.Leu225Val
ENST00000557224.5:c.673C>G	ENSP00000451208.1:p.Leu225Val
NM_001114377.1:c.673C>G	NP_001107849.1:p.Leu225Val
NM_014009.3:c.778C>G , LRG_62t1:c.778C>G	NP_054728.2:p.Leu260Val
XM_006724533.2:c.847C>G	XP_006724596.2:p.Leu283Val
XM_011543915.1:c.997C>G	XP_011542217.1:p.Leu333Val
XM_011543916.1:c.997C>G	XP_011542218.1:p.Leu333Val
XM_011543917.1:c.796C>G	XP_011542219.1:p.Leu266Val
XM_011543918.1:c.1033C>G	XP_011542220.1:p.Leu345Val
XM_011543919.1:c.997C>G	XP_011542221.1:p.Leu333Val
XM_017029567.1:c.724C>G	XP_016885056.1:p.Leu242Val
NM_001114377.2:c.673C>G	NP_001107849.1:p.Leu225Val
NM_014009.4:c.778C>G MANE Select	NP_054728.2:p.Leu260Val