Canonical Allele Identifier: CA412950404
Gene: FOXP3 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49253200A>C , CM000685.2:g.49253200A>C GRCh38
NC_000023.10:g.49109661A>C , CM000685.1:g.49109661A>C GRCh37
NC_000023.9:g.48996605A>C NCBI36
NG_007392.1:g.16628T>G , LRG_62:g.16628T>G
NG_021311.2:g.22736A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376199.7:c.865T>G ENSP00000365372.2:p.Phe289Val
ENST00000376207.10:c.970T>G MANE Select ENSP00000365380.4:p.Phe324Val
ENST00000455775.7:c.1039T>G ENSP00000396415.3:p.Phe347Val
ENST00000518685.6:c.889T>G ENSP00000428952.2:p.Phe297Val
ENST00000557224.6:c.865T>G ENSP00000451208.1:p.Phe289Val
ENST00000651307.1:c.967+717T>G ENSP00000498454.1:n.967+717T>G
ENST00000376197.1:c.820T>G ENSP00000365369.1:p.Phe274Val
ENST00000376199.6:c.865T>G ENSP00000365372.2:p.Phe289Val
ENST00000376207.8:c.970T>G ENSP00000365380.4:p.Phe324Val
ENST00000455775.6:c.1039T>G ENSP00000396415.3:p.Phe347Val
ENST00000518685.5:c.865T>G ENSP00000428952.1:p.Phe289Val
ENST00000557224.5:c.865T>G ENSP00000451208.1:p.Phe289Val
NM_001114377.1:c.865T>G NP_001107849.1:p.Phe289Val
NM_014009.3:c.970T>G , LRG_62t1:c.970T>G NP_054728.2:p.Phe324Val
XM_006724533.2:c.1039T>G XP_006724596.2:p.Phe347Val
XM_011543915.1:c.1189T>G XP_011542217.1:p.Phe397Val
XM_011543916.1:c.1189T>G XP_011542218.1:p.Phe397Val
XM_011543917.1:c.988T>G XP_011542219.1:p.Phe330Val
XM_011543918.1:c.1225T>G XP_011542220.1:p.Phe409Val
XM_011543919.1:c.1189T>G XP_011542221.1:p.Phe397Val
XM_017029567.1:c.916T>G XP_016885056.1:p.Phe306Val
NM_001114377.2:c.865T>G NP_001107849.1:p.Phe289Val
NM_014009.4:c.970T>G MANE Select NP_054728.2:p.Phe324Val