Canonical Allele Identifier: CA412951022

Gene: FOXP3

Linked Data

• MyVariant Identifiers: chrX:g.49111964G>C (hg19) ; chrX:g.49255503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255503G>C , CM000685.2:g.49255503G>C	GRCh38
NC_000023.10:g.49111964G>C , CM000685.1:g.49111964G>C	GRCh37
NC_000023.9:g.48998908G>C	NCBI36
NG_007392.1:g.14325C>G , LRG_62:g.14325C>G
NG_021311.2:g.25039G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376199.7:c.637C>G	ENSP00000365372.2:p.Leu213Val
ENST00000376207.10:c.742C>G MANE Select	ENSP00000365380.4:p.Leu248Val
ENST00000455775.7:c.811C>G	ENSP00000396415.3:p.Leu271Val
ENST00000518685.6:c.735+212C>G	ENSP00000428952.2:n.735+212C>G
ENST00000557224.6:c.637C>G	ENSP00000451208.1:p.Leu213Val
ENST00000651307.1:c.742C>G	ENSP00000498454.1:p.Leu248Val
ENST00000376197.1:c.592C>G	ENSP00000365369.1:p.Leu198Val
ENST00000376199.6:c.637C>G	ENSP00000365372.2:p.Leu213Val
ENST00000376207.8:c.742C>G	ENSP00000365380.4:p.Leu248Val
ENST00000455775.6:c.811C>G	ENSP00000396415.3:p.Leu271Val
ENST00000518685.5:c.637C>G	ENSP00000428952.1:p.Leu213Val
ENST00000557224.5:c.637C>G	ENSP00000451208.1:p.Leu213Val
NM_001114377.1:c.637C>G	NP_001107849.1:p.Leu213Val
NM_014009.3:c.742C>G , LRG_62t1:c.742C>G	NP_054728.2:p.Leu248Val
XM_006724533.2:c.811C>G	XP_006724596.2:p.Leu271Val
XM_011543915.1:c.961C>G	XP_011542217.1:p.Leu321Val
XM_011543916.1:c.961C>G	XP_011542218.1:p.Leu321Val
XM_011543917.1:c.760C>G	XP_011542219.1:p.Leu254Val
XM_011543918.1:c.997C>G	XP_011542220.1:p.Leu333Val
XM_011543919.1:c.961C>G	XP_011542221.1:p.Leu321Val
XM_017029567.1:c.688C>G	XP_016885056.1:p.Leu230Val
NM_001114377.2:c.637C>G	NP_001107849.1:p.Leu213Val
NM_014009.4:c.742C>G MANE Select	NP_054728.2:p.Leu248Val