Canonical Allele Identifier: CA412948253

Gene: FOXP3

Linked Data

• gnomAD v4: X-49251596-G-T
• MyVariant Identifiers: chrX:g.49108057G>T (hg19) ; chrX:g.49251596G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49251596G>T , CM000685.2:g.49251596G>T	GRCh38
NC_000023.10:g.49108057G>T , CM000685.1:g.49108057G>T	GRCh37
NC_000023.9:g.48995001G>T	NCBI36
NG_007392.1:g.18232C>A , LRG_62:g.18232C>A
NG_021311.2:g.21132G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376199.7:c.1041+68C>A	ENSP00000365372.2:n.1041+68C>A
ENST00000376207.10:c.1146+68C>A MANE Select	ENSP00000365380.4:n.1146+68C>A
ENST00000455775.7:c.1215+68C>A	ENSP00000396415.3:n.1215+68C>A
ENST00000518685.6:c.1065+68C>A	ENSP00000428952.2:n.1065+68C>A
ENST00000557224.6:c.1109C>A	ENSP00000451208.1:p.Ala370Asp
ENST00000651307.1:c.*61+68C>A	ENSP00000498454.1:n.*61+68C>A
ENST00000376197.1:c.1064C>A	ENSP00000365369.1:p.Ala355Asp
ENST00000376199.6:c.1041+68C>A	ENSP00000365372.2:n.1041+68C>A
ENST00000376207.8:c.1146+68C>A	ENSP00000365380.4:n.1146+68C>A
ENST00000455775.6:c.1215+68C>A	ENSP00000396415.3:n.1215+68C>A
ENST00000518685.5:c.1041+68C>A	ENSP00000428952.1:n.1041+68C>A
ENST00000557224.5:c.1109C>A	ENSP00000451208.1:p.Ala370Asp
NM_001114377.1:c.1041+68C>A	NP_001107849.1:n.1041+68C>A
NM_014009.3:c.1146+68C>A , LRG_62t1:c.1146+68C>A	NP_054728.2:n.1146+68C>A
XM_006724533.2:c.1215+68C>A	XP_006724596.2:n.1215+68C>A
XM_011543915.1:c.1433C>A	XP_011542217.1:p.Ala478Asp
XM_011543916.1:c.1433C>A	XP_011542218.1:p.Ala478Asp
XM_011543917.1:c.1164+68C>A	XP_011542219.1:n.1164+68C>A
XM_011543918.1:c.1401+68C>A	XP_011542220.1:n.1401+68C>A
XM_011543919.1:c.1365+68C>A	XP_011542221.1:n.1365+68C>A
XM_017029567.1:c.1160C>A	XP_016885056.1:p.Ala387Asp
NM_001114377.2:c.1041+68C>A	NP_001107849.1:n.1041+68C>A
NM_014009.4:c.1146+68C>A MANE Select	NP_054728.2:n.1146+68C>A