Canonical Allele Identifier: CA412949041

Gene: FOXP3

Linked Data

• MyVariant Identifiers: chrX:g.49108223T>A (hg19) ; chrX:g.49251762T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49251762T>A , CM000685.2:g.49251762T>A	GRCh38
NC_000023.10:g.49108223T>A , CM000685.1:g.49108223T>A	GRCh37
NC_000023.9:g.48995167T>A	NCBI36
NG_007392.1:g.18066A>T , LRG_62:g.18066A>T
NG_021311.2:g.21298T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376199.7:c.943A>T	ENSP00000365372.2:p.Ile315Phe
ENST00000376207.10:c.1048A>T MANE Select	ENSP00000365380.4:p.Ile350Phe
ENST00000455775.7:c.1117A>T	ENSP00000396415.3:p.Ile373Phe
ENST00000518685.6:c.967A>T	ENSP00000428952.2:p.Ile323Phe
ENST00000557224.6:c.943A>T	ENSP00000451208.1:p.Ile315Phe
ENST00000651307.1:c.971A>T	ENSP00000498454.1:p.His324Leu
ENST00000376197.1:c.898A>T	ENSP00000365369.1:p.Ile300Phe
ENST00000376199.6:c.943A>T	ENSP00000365372.2:p.Ile315Phe
ENST00000376207.8:c.1048A>T	ENSP00000365380.4:p.Ile350Phe
ENST00000455775.6:c.1117A>T	ENSP00000396415.3:p.Ile373Phe
ENST00000518685.5:c.943A>T	ENSP00000428952.1:p.Ile315Phe
ENST00000557224.5:c.943A>T	ENSP00000451208.1:p.Ile315Phe
NM_001114377.1:c.943A>T	NP_001107849.1:p.Ile315Phe
NM_014009.3:c.1048A>T , LRG_62t1:c.1048A>T	NP_054728.2:p.Ile350Phe
XM_006724533.2:c.1117A>T	XP_006724596.2:p.Ile373Phe
XM_011543915.1:c.1267A>T	XP_011542217.1:p.Ile423Phe
XM_011543916.1:c.1267A>T	XP_011542218.1:p.Ile423Phe
XM_011543917.1:c.1066A>T	XP_011542219.1:p.Ile356Phe
XM_011543918.1:c.1303A>T	XP_011542220.1:p.Ile435Phe
XM_011543919.1:c.1267A>T	XP_011542221.1:p.Ile423Phe
XM_017029567.1:c.994A>T	XP_016885056.1:p.Ile332Phe
NM_001114377.2:c.943A>T	NP_001107849.1:p.Ile315Phe
NM_014009.4:c.1048A>T MANE Select	NP_054728.2:p.Ile350Phe