Canonical Allele Identifier: CA412947192
Community Standard Title: NM_014009.4(FOXP3):c.1253G>C (p.Ser418Thr)
Gene: FOXP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49251377C>G , CM000685.2:g.49251377C>G GRCh38
NC_000023.10:g.49107838C>G , CM000685.1:g.49107838C>G GRCh37
NC_000023.9:g.48994782C>G NCBI36
NG_007392.1:g.18451G>C , LRG_62:g.18451G>C
NG_021311.2:g.20913C>G

Transcript Alleles

HGVS Amino-acid Change
NM_014009.4:c.1253G>C MANE Select NP_054728.2:p.Ser418Thr
ENST00000376207.10:c.1253G>C MANE Select ENSP00000365380.4:p.Ser418Thr
NM_001114377.1:c.1148G>C NP_001107849.1:p.Ser383Thr
NM_001114377.2:c.1148G>C NP_001107849.1:p.Ser383Thr
NM_014009.3:c.1253G>C , LRG_62t1:c.1253G>C NP_054728.2:p.Ser418Thr
ENST00000376197.1:c.1283G>C ENSP00000365369.1:p.Ser428Thr
ENST00000376199.6:c.1148G>C ENSP00000365372.2:p.Ser383Thr
ENST00000376199.7:c.1148G>C ENSP00000365372.2:p.Ser383Thr
ENST00000376207.8:c.1253G>C ENSP00000365380.4:p.Ser418Thr
ENST00000455775.6:c.1322G>C ENSP00000396415.3:p.Ser441Thr
ENST00000455775.7:c.1322G>C ENSP00000396415.3:p.Ser441Thr
ENST00000518685.5:c.1148G>C ENSP00000428952.1:p.Ser383Thr
ENST00000518685.6:c.1172G>C ENSP00000428952.2:p.Ser391Thr
ENST00000557224.5:c.1328G>C ENSP00000451208.1:p.Ser443Thr
ENST00000557224.6:c.1328G>C ENSP00000451208.1:p.Ser443Thr
ENST00000651307.1:c.*168G>C ENSP00000498454.1:n.*168G>C
XM_006724533.2:c.1322G>C XP_006724596.2:p.Ser441Thr
XM_011543915.1:c.1652G>C XP_011542217.1:p.Ser551Thr
XM_011543916.1:c.1652G>C XP_011542218.1:p.Ser551Thr
XM_011543917.1:c.1271G>C XP_011542219.1:p.Ser424Thr
XM_011543918.1:c.1508G>C XP_011542220.1:p.Ser503Thr
XM_011543919.1:c.1472G>C XP_011542221.1:p.Ser491Thr
XM_017029567.1:c.1379G>C XP_016885056.1:p.Ser460Thr