Canonical Allele Identifier: CA412950943
Gene: FOXP3 HGNC NCBI

Linked Data

gnomAD v4: X-49255470-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49255470G>A , CM000685.2:g.49255470G>A GRCh38
NC_000023.10:g.49111931G>A , CM000685.1:g.49111931G>A GRCh37
NC_000023.9:g.48998875G>A NCBI36
NG_007392.1:g.14358C>T , LRG_62:g.14358C>T
NG_021311.2:g.25006G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376199.7:c.670C>T ENSP00000365372.2:p.His224Tyr
ENST00000376207.10:c.775C>T MANE Select ENSP00000365380.4:p.His259Tyr
ENST00000455775.7:c.844C>T ENSP00000396415.3:p.His282Tyr
ENST00000518685.6:c.735+245C>T ENSP00000428952.2:n.735+245C>T
ENST00000557224.6:c.670C>T ENSP00000451208.1:p.His224Tyr
ENST00000651307.1:c.775C>T ENSP00000498454.1:p.His259Tyr
ENST00000376197.1:c.625C>T ENSP00000365369.1:p.His209Tyr
ENST00000376199.6:c.670C>T ENSP00000365372.2:p.His224Tyr
ENST00000376207.8:c.775C>T ENSP00000365380.4:p.His259Tyr
ENST00000455775.6:c.844C>T ENSP00000396415.3:p.His282Tyr
ENST00000518685.5:c.670C>T ENSP00000428952.1:p.His224Tyr
ENST00000557224.5:c.670C>T ENSP00000451208.1:p.His224Tyr
NM_001114377.1:c.670C>T NP_001107849.1:p.His224Tyr
NM_014009.3:c.775C>T , LRG_62t1:c.775C>T NP_054728.2:p.His259Tyr
XM_006724533.2:c.844C>T XP_006724596.2:p.His282Tyr
XM_011543915.1:c.994C>T XP_011542217.1:p.His332Tyr
XM_011543916.1:c.994C>T XP_011542218.1:p.His332Tyr
XM_011543917.1:c.793C>T XP_011542219.1:p.His265Tyr
XM_011543918.1:c.1030C>T XP_011542220.1:p.His344Tyr
XM_011543919.1:c.994C>T XP_011542221.1:p.His332Tyr
XM_017029567.1:c.721C>T XP_016885056.1:p.His241Tyr
NM_001114377.2:c.670C>T NP_001107849.1:p.His224Tyr
NM_014009.4:c.775C>T MANE Select NP_054728.2:p.His259Tyr