Canonical Allele Identifier: CA516569818
Community Standard Title: NM_014009.4(FOXP3):c.1191G>T (p.Arg397=)
Gene: FOXP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49251439C>A , CM000685.2:g.49251439C>A GRCh38
NC_000023.10:g.49107900C>A , CM000685.1:g.49107900C>A GRCh37
NC_000023.9:g.48994844C>A NCBI36
NG_007392.1:g.18389G>T , LRG_62:g.18389G>T
NG_021311.2:g.20975C>A

Transcript Alleles

HGVS Amino-acid Change
NM_014009.4:c.1191G>T MANE Select NP_054728.2:p.Arg397=
ENST00000376207.10:c.1191G>T MANE Select ENSP00000365380.4:p.Arg397=
NM_001114377.1:c.1086G>T NP_001107849.1:p.Arg362=
NM_001114377.2:c.1086G>T NP_001107849.1:p.Arg362=
NM_014009.3:c.1191G>T , LRG_62t1:c.1191G>T NP_054728.2:p.Arg397=
ENST00000376197.1:c.1221G>T ENSP00000365369.1:p.Arg407=
ENST00000376199.6:c.1086G>T ENSP00000365372.2:p.Arg362=
ENST00000376199.7:c.1086G>T ENSP00000365372.2:p.Arg362=
ENST00000376207.8:c.1191G>T ENSP00000365380.4:p.Arg397=
ENST00000455775.6:c.1260G>T ENSP00000396415.3:p.Arg420=
ENST00000455775.7:c.1260G>T ENSP00000396415.3:p.Arg420=
ENST00000518685.5:c.1086G>T ENSP00000428952.1:p.Arg362=
ENST00000518685.6:c.1110G>T ENSP00000428952.2:p.Arg370=
ENST00000557224.5:c.1266G>T ENSP00000451208.1:p.Arg422=
ENST00000557224.6:c.1266G>T ENSP00000451208.1:p.Arg422=
ENST00000651307.1:c.*106G>T ENSP00000498454.1:n.*106G>T
XM_006724533.2:c.1260G>T XP_006724596.2:p.Arg420=
XM_011543915.1:c.1590G>T XP_011542217.1:p.Arg530=
XM_011543916.1:c.1590G>T XP_011542218.1:p.Arg530=
XM_011543917.1:c.1209G>T XP_011542219.1:p.Arg403=
XM_011543918.1:c.1446G>T XP_011542220.1:p.Arg482=
XM_011543919.1:c.1410G>T XP_011542221.1:p.Arg470=
XM_017029567.1:c.1317G>T XP_016885056.1:p.Arg439=