Canonical Allele Identifier: CA412950936
Gene: FOXP3 HGNC NCBI

Linked Data

gnomAD v4: X-49255467-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49255467G>T , CM000685.2:g.49255467G>T GRCh38
NC_000023.10:g.49111928G>T , CM000685.1:g.49111928G>T GRCh37
NC_000023.9:g.48998872G>T NCBI36
NG_007392.1:g.14361C>A , LRG_62:g.14361C>A
NG_021311.2:g.25003G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376199.7:c.673C>A ENSP00000365372.2:p.Leu225Met
ENST00000376207.10:c.778C>A MANE Select ENSP00000365380.4:p.Leu260Met
ENST00000455775.7:c.847C>A ENSP00000396415.3:p.Leu283Met
ENST00000518685.6:c.735+248C>A ENSP00000428952.2:n.735+248C>A
ENST00000557224.6:c.673C>A ENSP00000451208.1:p.Leu225Met
ENST00000651307.1:c.778C>A ENSP00000498454.1:p.Leu260Met
ENST00000376197.1:c.628C>A ENSP00000365369.1:p.Leu210Met
ENST00000376199.6:c.673C>A ENSP00000365372.2:p.Leu225Met
ENST00000376207.8:c.778C>A ENSP00000365380.4:p.Leu260Met
ENST00000455775.6:c.847C>A ENSP00000396415.3:p.Leu283Met
ENST00000518685.5:c.673C>A ENSP00000428952.1:p.Leu225Met
ENST00000557224.5:c.673C>A ENSP00000451208.1:p.Leu225Met
NM_001114377.1:c.673C>A NP_001107849.1:p.Leu225Met
NM_014009.3:c.778C>A , LRG_62t1:c.778C>A NP_054728.2:p.Leu260Met
XM_006724533.2:c.847C>A XP_006724596.2:p.Leu283Met
XM_011543915.1:c.997C>A XP_011542217.1:p.Leu333Met
XM_011543916.1:c.997C>A XP_011542218.1:p.Leu333Met
XM_011543917.1:c.796C>A XP_011542219.1:p.Leu266Met
XM_011543918.1:c.1033C>A XP_011542220.1:p.Leu345Met
XM_011543919.1:c.997C>A XP_011542221.1:p.Leu333Met
XM_017029567.1:c.724C>A XP_016885056.1:p.Leu242Met
NM_001114377.2:c.673C>A NP_001107849.1:p.Leu225Met
NM_014009.4:c.778C>A MANE Select NP_054728.2:p.Leu260Met