Canonical Allele Identifier: CA412950916
Gene: FOXP3 HGNC NCBI

Linked Data

gnomAD v4: X-49255457-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49255457T>C , CM000685.2:g.49255457T>C GRCh38
NC_000023.10:g.49111918T>C , CM000685.1:g.49111918T>C GRCh37
NC_000023.9:g.48998862T>C NCBI36
NG_007392.1:g.14371A>G , LRG_62:g.14371A>G
NG_021311.2:g.24993T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376199.7:c.683A>G ENSP00000365372.2:p.Lys228Arg
ENST00000376207.10:c.788A>G MANE Select ENSP00000365380.4:p.Lys263Arg
ENST00000455775.7:c.857A>G ENSP00000396415.3:p.Lys286Arg
ENST00000518685.6:c.735+258A>G ENSP00000428952.2:n.735+258A>G
ENST00000557224.6:c.683A>G ENSP00000451208.1:p.Lys228Arg
ENST00000651307.1:c.788A>G ENSP00000498454.1:p.Lys263Arg
ENST00000376197.1:c.638A>G ENSP00000365369.1:p.Lys213Arg
ENST00000376199.6:c.683A>G ENSP00000365372.2:p.Lys228Arg
ENST00000376207.8:c.788A>G ENSP00000365380.4:p.Lys263Arg
ENST00000455775.6:c.857A>G ENSP00000396415.3:p.Lys286Arg
ENST00000518685.5:c.683A>G ENSP00000428952.1:p.Lys228Arg
ENST00000557224.5:c.683A>G ENSP00000451208.1:p.Lys228Arg
NM_001114377.1:c.683A>G NP_001107849.1:p.Lys228Arg
NM_014009.3:c.788A>G , LRG_62t1:c.788A>G NP_054728.2:p.Lys263Arg
XM_006724533.2:c.857A>G XP_006724596.2:p.Lys286Arg
XM_011543915.1:c.1007A>G XP_011542217.1:p.Lys336Arg
XM_011543916.1:c.1007A>G XP_011542218.1:p.Lys336Arg
XM_011543917.1:c.806A>G XP_011542219.1:p.Lys269Arg
XM_011543918.1:c.1043A>G XP_011542220.1:p.Lys348Arg
XM_011543919.1:c.1007A>G XP_011542221.1:p.Lys336Arg
XM_017029567.1:c.734A>G XP_016885056.1:p.Lys245Arg
NM_001114377.2:c.683A>G NP_001107849.1:p.Lys228Arg
NM_014009.4:c.788A>G MANE Select NP_054728.2:p.Lys263Arg