Canonical Allele Identifier: CA412951105
Gene: FOXP3 HGNC NCBI

Linked Data

gnomAD v4: X-49255739-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49255739C>A , CM000685.2:g.49255739C>A GRCh38
NC_000023.10:g.49112200C>A , CM000685.1:g.49112200C>A GRCh37
NC_000023.9:g.48999144C>A NCBI36
NG_007392.1:g.14089G>T , LRG_62:g.14089G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376199.7:c.606G>T ENSP00000365372.2:p.Glu202Asp
ENST00000376207.10:c.711G>T MANE Select ENSP00000365380.4:p.Glu237Asp
ENST00000455775.7:c.780G>T ENSP00000396415.3:p.Glu260Asp
ENST00000518685.6:c.711G>T ENSP00000428952.2:p.Glu237Asp
ENST00000557224.6:c.606G>T ENSP00000451208.1:p.Glu202Asp
ENST00000651307.1:c.711G>T ENSP00000498454.1:p.Glu237Asp
ENST00000376197.1:c.561G>T ENSP00000365369.1:p.Glu187Asp
ENST00000376199.6:c.606G>T ENSP00000365372.2:p.Glu202Asp
ENST00000376207.8:c.711G>T ENSP00000365380.4:p.Glu237Asp
ENST00000455775.6:c.780G>T ENSP00000396415.3:p.Glu260Asp
ENST00000518685.5:c.606G>T ENSP00000428952.1:p.Glu202Asp
ENST00000557224.5:c.606G>T ENSP00000451208.1:p.Glu202Asp
NM_001114377.1:c.606G>T NP_001107849.1:p.Glu202Asp
NM_014009.3:c.711G>T , LRG_62t1:c.711G>T NP_054728.2:p.Glu237Asp
XM_006724533.2:c.780G>T XP_006724596.2:p.Glu260Asp
XM_011543915.1:c.930G>T XP_011542217.1:p.Glu310Asp
XM_011543916.1:c.930G>T XP_011542218.1:p.Glu310Asp
XM_011543917.1:c.729G>T XP_011542219.1:p.Glu243Asp
XM_011543918.1:c.966G>T XP_011542220.1:p.Glu322Asp
XM_011543919.1:c.930G>T XP_011542221.1:p.Glu310Asp
XM_017029567.1:c.657G>T XP_016885056.1:p.Glu219Asp
NM_001114377.2:c.606G>T NP_001107849.1:p.Glu202Asp
NM_014009.4:c.711G>T MANE Select NP_054728.2:p.Glu237Asp