Canonical Allele Identifier: CA412951014
Gene: FOXP3 HGNC NCBI

Linked Data

gnomAD v4: X-49255499-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49255499T>C , CM000685.2:g.49255499T>C GRCh38
NC_000023.10:g.49111960T>C , CM000685.1:g.49111960T>C GRCh37
NC_000023.9:g.48998904T>C NCBI36
NG_007392.1:g.14329A>G , LRG_62:g.14329A>G
NG_021311.2:g.25035T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376199.7:c.641A>G ENSP00000365372.2:p.Glu214Gly
ENST00000376207.10:c.746A>G MANE Select ENSP00000365380.4:p.Glu249Gly
ENST00000455775.7:c.815A>G ENSP00000396415.3:p.Glu272Gly
ENST00000518685.6:c.735+216A>G ENSP00000428952.2:n.735+216A>G
ENST00000557224.6:c.641A>G ENSP00000451208.1:p.Glu214Gly
ENST00000651307.1:c.746A>G ENSP00000498454.1:p.Glu249Gly
ENST00000376197.1:c.596A>G ENSP00000365369.1:p.Glu199Gly
ENST00000376199.6:c.641A>G ENSP00000365372.2:p.Glu214Gly
ENST00000376207.8:c.746A>G ENSP00000365380.4:p.Glu249Gly
ENST00000455775.6:c.815A>G ENSP00000396415.3:p.Glu272Gly
ENST00000518685.5:c.641A>G ENSP00000428952.1:p.Glu214Gly
ENST00000557224.5:c.641A>G ENSP00000451208.1:p.Glu214Gly
NM_001114377.1:c.641A>G NP_001107849.1:p.Glu214Gly
NM_014009.3:c.746A>G , LRG_62t1:c.746A>G NP_054728.2:p.Glu249Gly
XM_006724533.2:c.815A>G XP_006724596.2:p.Glu272Gly
XM_011543915.1:c.965A>G XP_011542217.1:p.Glu322Gly
XM_011543916.1:c.965A>G XP_011542218.1:p.Glu322Gly
XM_011543917.1:c.764A>G XP_011542219.1:p.Glu255Gly
XM_011543918.1:c.1001A>G XP_011542220.1:p.Glu334Gly
XM_011543919.1:c.965A>G XP_011542221.1:p.Glu322Gly
XM_017029567.1:c.692A>G XP_016885056.1:p.Glu231Gly
NM_001114377.2:c.641A>G NP_001107849.1:p.Glu214Gly
NM_014009.4:c.746A>G MANE Select NP_054728.2:p.Glu249Gly