Canonical Allele Identifier: CA516399603
Gene: FOXP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 792701
ClinVar RCV Id: RCV001410955
dbSNP Id: rs1602687640
gnomAD v4: X-49258377-T-C
MyVariant Identifiers: chrX:g.49114834T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49258377T>C , CM000685.2:g.49258377T>C GRCh38
NC_000023.10:g.49114834T>C , CM000685.1:g.49114834T>C GRCh37
NC_000023.9:g.49001778T>C NCBI36
NG_007392.1:g.11455A>G , LRG_62:g.11455A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000703450.1:c.129A>G ENSP00000515301.1:p.Gly43=
ENST00000684155.1:c.129A>G ENSP00000507726.1:p.Gly43=
ENST00000376199.7:c.129A>G ENSP00000365372.2:p.Gly43=
ENST00000376207.10:c.129A>G MANE Select ENSP00000365380.4:p.Gly43=
ENST00000455775.7:c.129A>G ENSP00000396415.3:p.Gly43=
ENST00000518685.6:c.129A>G ENSP00000428952.2:p.Gly43=
ENST00000557224.6:c.129A>G ENSP00000451208.1:p.Gly43=
ENST00000650877.1:c.129A>G ENSP00000499100.1:p.Gly43=
ENST00000651307.1:c.129A>G ENSP00000498454.1:p.Gly43=
ENST00000652559.1:c.129A>G ENSP00000498236.1:p.Gly43=
ENST00000376197.1:c.84A>G ENSP00000365369.1:p.Gly28=
ENST00000376199.6:c.129A>G ENSP00000365372.2:p.Gly43=
ENST00000376207.8:c.129A>G ENSP00000365380.4:p.Gly43=
ENST00000455775.6:c.129A>G ENSP00000396415.3:p.Gly43=
ENST00000518685.5:c.129A>G ENSP00000428952.1:p.Gly43=
ENST00000557224.5:c.129A>G ENSP00000451208.1:p.Gly43=
NM_001114377.1:c.129A>G NP_001107849.1:p.Gly43=
NM_014009.3:c.129A>G , LRG_62t1:c.129A>G NP_054728.2:p.Gly43=
XM_006724533.2:c.129A>G XP_006724596.2:p.Gly43=
XM_011543915.1:c.453A>G XP_011542217.1:p.Gly151=
XM_011543916.1:c.453A>G XP_011542218.1:p.Gly151=
XM_011543917.1:c.129A>G XP_011542219.1:p.Gly43=
XM_011543918.1:c.453A>G XP_011542220.1:p.Gly151=
XM_011543919.1:c.453A>G XP_011542221.1:p.Gly151=
XM_017029567.1:c.180A>G XP_016885056.1:p.Gly60=
NM_001114377.2:c.129A>G NP_001107849.1:p.Gly43=
NM_014009.4:c.129A>G MANE Select NP_054728.2:p.Gly43=