Canonical Allele Identifier: CA16608510
Gene: FOXP3 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49251440C>T , CM000685.2:g.49251440C>T GRCh38
NC_000023.10:g.49107901C>T , CM000685.1:g.49107901C>T GRCh37
NC_000023.9:g.48994845C>T NCBI36
NG_007392.1:g.18388G>A , LRG_62:g.18388G>A
NG_021311.2:g.20976C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376199.7:c.1085G>A ENSP00000365372.2:p.Arg362Gln
ENST00000376207.10:c.1190G>A MANE Select ENSP00000365380.4:p.Arg397Gln
ENST00000455775.7:c.1259G>A ENSP00000396415.3:p.Arg420Gln
ENST00000518685.6:c.1109G>A ENSP00000428952.2:p.Arg370Gln
ENST00000557224.6:c.1265G>A ENSP00000451208.1:p.Arg422Gln
ENST00000651307.1:c.*105G>A ENSP00000498454.1:n.*105G>A
ENST00000376197.1:c.1220G>A ENSP00000365369.1:p.Arg407Gln
ENST00000376199.6:c.1085G>A ENSP00000365372.2:p.Arg362Gln
ENST00000376207.8:c.1190G>A ENSP00000365380.4:p.Arg397Gln
ENST00000455775.6:c.1259G>A ENSP00000396415.3:p.Arg420Gln
ENST00000518685.5:c.1085G>A ENSP00000428952.1:p.Arg362Gln
ENST00000557224.5:c.1265G>A ENSP00000451208.1:p.Arg422Gln
NM_001114377.1:c.1085G>A NP_001107849.1:p.Arg362Gln
NM_014009.3:c.1190G>A , LRG_62t1:c.1190G>A NP_054728.2:p.Arg397Gln
XM_006724533.2:c.1259G>A XP_006724596.2:p.Arg420Gln
XM_011543915.1:c.1589G>A XP_011542217.1:p.Arg530Gln
XM_011543916.1:c.1589G>A XP_011542218.1:p.Arg530Gln
XM_011543917.1:c.1208G>A XP_011542219.1:p.Arg403Gln
XM_011543918.1:c.1445G>A XP_011542220.1:p.Arg482Gln
XM_011543919.1:c.1409G>A XP_011542221.1:p.Arg470Gln
XM_017029567.1:c.1316G>A XP_016885056.1:p.Arg439Gln
NM_001114377.2:c.1085G>A NP_001107849.1:p.Arg362Gln
NM_014009.4:c.1190G>A MANE Select NP_054728.2:p.Arg397Gln