Canonical Allele Identifier: CA412951002
Gene: FOXP3 HGNC NCBI

Linked Data

gnomAD v4: X-49255494-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49255494C>A , CM000685.2:g.49255494C>A GRCh38
NC_000023.10:g.49111955C>A , CM000685.1:g.49111955C>A GRCh37
NC_000023.9:g.48998899C>A NCBI36
NG_007392.1:g.14334G>T , LRG_62:g.14334G>T
NG_021311.2:g.25030C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376199.7:c.646G>T ENSP00000365372.2:p.Glu216Ter
ENST00000376207.10:c.751G>T MANE Select ENSP00000365380.4:p.Glu251Ter
ENST00000455775.7:c.820G>T ENSP00000396415.3:p.Glu274Ter
ENST00000518685.6:c.735+221G>T ENSP00000428952.2:n.735+221G>T
ENST00000557224.6:c.646G>T ENSP00000451208.1:p.Glu216Ter
ENST00000651307.1:c.751G>T ENSP00000498454.1:p.Glu251Ter
ENST00000376197.1:c.601G>T ENSP00000365369.1:p.Glu201Ter
ENST00000376199.6:c.646G>T ENSP00000365372.2:p.Glu216Ter
ENST00000376207.8:c.751G>T ENSP00000365380.4:p.Glu251Ter
ENST00000455775.6:c.820G>T ENSP00000396415.3:p.Glu274Ter
ENST00000518685.5:c.646G>T ENSP00000428952.1:p.Glu216Ter
ENST00000557224.5:c.646G>T ENSP00000451208.1:p.Glu216Ter
NM_001114377.1:c.646G>T NP_001107849.1:p.Glu216Ter
NM_014009.3:c.751G>T , LRG_62t1:c.751G>T NP_054728.2:p.Glu251Ter
XM_006724533.2:c.820G>T XP_006724596.2:p.Glu274Ter
XM_011543915.1:c.970G>T XP_011542217.1:p.Glu324Ter
XM_011543916.1:c.970G>T XP_011542218.1:p.Glu324Ter
XM_011543917.1:c.769G>T XP_011542219.1:p.Glu257Ter
XM_011543918.1:c.1006G>T XP_011542220.1:p.Glu336Ter
XM_011543919.1:c.970G>T XP_011542221.1:p.Glu324Ter
XM_017029567.1:c.697G>T XP_016885056.1:p.Glu233Ter
NM_001114377.2:c.646G>T NP_001107849.1:p.Glu216Ter
NM_014009.4:c.751G>T MANE Select NP_054728.2:p.Glu251Ter