Canonical Allele Identifier: CA16043255
Gene: FOXP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 372368
ClinVar RCV Id: RCV000413665
dbSNP Id: rs1057517736
MyVariant Identifiers: chrX:g.49109622G>A (hg19) chrX:g.49253161G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49253161G>A , CM000685.2:g.49253161G>A GRCh38
NC_000023.10:g.49109622G>A , CM000685.1:g.49109622G>A GRCh37
NC_000023.9:g.48996566G>A NCBI36
NG_007392.1:g.16667C>T , LRG_62:g.16667C>T
NG_021311.2:g.22697G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376199.7:c.904C>T ENSP00000365372.2:p.Arg302Ter
ENST00000376207.10:c.1009C>T MANE Select ENSP00000365380.4:p.Arg337Ter
ENST00000455775.7:c.1078C>T ENSP00000396415.3:p.Arg360Ter
ENST00000518685.6:c.928C>T ENSP00000428952.2:p.Arg310Ter
ENST00000557224.6:c.904C>T ENSP00000451208.1:p.Arg302Ter
ENST00000651307.1:c.967+756C>T ENSP00000498454.1:n.967+756C>T
ENST00000376197.1:c.859C>T ENSP00000365369.1:p.Arg287Ter
ENST00000376199.6:c.904C>T ENSP00000365372.2:p.Arg302Ter
ENST00000376207.8:c.1009C>T ENSP00000365380.4:p.Arg337Ter
ENST00000455775.6:c.1078C>T ENSP00000396415.3:p.Arg360Ter
ENST00000518685.5:c.904C>T ENSP00000428952.1:p.Arg302Ter
ENST00000557224.5:c.904C>T ENSP00000451208.1:p.Arg302Ter
NM_001114377.1:c.904C>T NP_001107849.1:p.Arg302Ter
NM_014009.3:c.1009C>T , LRG_62t1:c.1009C>T NP_054728.2:p.Arg337Ter
XM_006724533.2:c.1078C>T XP_006724596.2:p.Arg360Ter
XM_011543915.1:c.1228C>T XP_011542217.1:p.Arg410Ter
XM_011543916.1:c.1228C>T XP_011542218.1:p.Arg410Ter
XM_011543917.1:c.1027C>T XP_011542219.1:p.Arg343Ter
XM_011543918.1:c.1264C>T XP_011542220.1:p.Arg422Ter
XM_011543919.1:c.1228C>T XP_011542221.1:p.Arg410Ter
XM_017029567.1:c.955C>T XP_016885056.1:p.Arg319Ter
NM_001114377.2:c.904C>T NP_001107849.1:p.Arg302Ter
NM_014009.4:c.1009C>T MANE Select NP_054728.2:p.Arg337Ter
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