Canonical Allele Identifier: CA10411634
Community Standard Title: NM_014009.4(FOXP3):c.1249C>T (p.Arg417Trp)
Gene: FOXP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49251381G>A , CM000685.2:g.49251381G>A GRCh38
NC_000023.10:g.49107842G>A , CM000685.1:g.49107842G>A GRCh37
NC_000023.9:g.48994786G>A NCBI36
NG_007392.1:g.18447C>T , LRG_62:g.18447C>T
NG_021311.2:g.20917G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014009.4:c.1249C>T MANE Select NP_054728.2:p.Arg417Trp
ENST00000376207.10:c.1249C>T MANE Select ENSP00000365380.4:p.Arg417Trp
NM_001114377.1:c.1144C>T NP_001107849.1:p.Arg382Trp
NM_001114377.2:c.1144C>T NP_001107849.1:p.Arg382Trp
NM_014009.3:c.1249C>T , LRG_62t1:c.1249C>T NP_054728.2:p.Arg417Trp
ENST00000376197.1:c.1279C>T ENSP00000365369.1:p.Arg427Trp
ENST00000376199.6:c.1144C>T ENSP00000365372.2:p.Arg382Trp
ENST00000376199.7:c.1144C>T ENSP00000365372.2:p.Arg382Trp
ENST00000376207.8:c.1249C>T ENSP00000365380.4:p.Arg417Trp
ENST00000455775.6:c.1318C>T ENSP00000396415.3:p.Arg440Trp
ENST00000455775.7:c.1318C>T ENSP00000396415.3:p.Arg440Trp
ENST00000518685.5:c.1144C>T ENSP00000428952.1:p.Arg382Trp
ENST00000518685.6:c.1168C>T ENSP00000428952.2:p.Arg390Trp
ENST00000557224.5:c.1324C>T ENSP00000451208.1:p.Arg442Trp
ENST00000557224.6:c.1324C>T ENSP00000451208.1:p.Arg442Trp
ENST00000651307.1:c.*164C>T ENSP00000498454.1:n.*164C>T
XM_006724533.2:c.1318C>T XP_006724596.2:p.Arg440Trp
XM_011543915.1:c.1648C>T XP_011542217.1:p.Arg550Trp
XM_011543916.1:c.1648C>T XP_011542218.1:p.Arg550Trp
XM_011543917.1:c.1267C>T XP_011542219.1:p.Arg423Trp
XM_011543918.1:c.1504C>T XP_011542220.1:p.Arg502Trp
XM_011543919.1:c.1468C>T XP_011542221.1:p.Arg490Trp
XM_017029567.1:c.1375C>T XP_016885056.1:p.Arg459Trp