Canonical Allele Identifier: CA412948313

Gene: FOXP3

Linked Data

• dbSNP Id: rs1293173319
• MyVariant Identifiers: chrX:g.49108069T>A (hg19) ; chrX:g.49251608T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49251608T>A , CM000685.2:g.49251608T>A	GRCh38
NC_000023.10:g.49108069T>A , CM000685.1:g.49108069T>A	GRCh37
NC_000023.9:g.48995013T>A	NCBI36
NG_007392.1:g.18220A>T , LRG_62:g.18220A>T
NG_021311.2:g.21144T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376199.7:c.1041+56A>T	ENSP00000365372.2:n.1041+56A>T
ENST00000376207.10:c.1146+56A>T MANE Select	ENSP00000365380.4:n.1146+56A>T
ENST00000455775.7:c.1215+56A>T	ENSP00000396415.3:n.1215+56A>T
ENST00000518685.6:c.1065+56A>T	ENSP00000428952.2:n.1065+56A>T
ENST00000557224.6:c.1097A>T	ENSP00000451208.1:p.Gln366Leu
ENST00000651307.1:c.*61+56A>T	ENSP00000498454.1:n.*61+56A>T
ENST00000376197.1:c.1052A>T	ENSP00000365369.1:p.Gln351Leu
ENST00000376199.6:c.1041+56A>T	ENSP00000365372.2:n.1041+56A>T
ENST00000376207.8:c.1146+56A>T	ENSP00000365380.4:n.1146+56A>T
ENST00000455775.6:c.1215+56A>T	ENSP00000396415.3:n.1215+56A>T
ENST00000518685.5:c.1041+56A>T	ENSP00000428952.1:n.1041+56A>T
ENST00000557224.5:c.1097A>T	ENSP00000451208.1:p.Gln366Leu
NM_001114377.1:c.1041+56A>T	NP_001107849.1:n.1041+56A>T
NM_014009.3:c.1146+56A>T , LRG_62t1:c.1146+56A>T	NP_054728.2:n.1146+56A>T
XM_006724533.2:c.1215+56A>T	XP_006724596.2:n.1215+56A>T
XM_011543915.1:c.1421A>T	XP_011542217.1:p.Gln474Leu
XM_011543916.1:c.1421A>T	XP_011542218.1:p.Gln474Leu
XM_011543917.1:c.1164+56A>T	XP_011542219.1:n.1164+56A>T
XM_011543918.1:c.1401+56A>T	XP_011542220.1:n.1401+56A>T
XM_011543919.1:c.1365+56A>T	XP_011542221.1:n.1365+56A>T
XM_017029567.1:c.1148A>T	XP_016885056.1:p.Gln383Leu
NM_001114377.2:c.1041+56A>T	NP_001107849.1:n.1041+56A>T
NM_014009.4:c.1146+56A>T MANE Select	NP_054728.2:n.1146+56A>T