Canonical Allele Identifier: CA344391600
Community Standard Title: NM_001005388.3(NFASC):c.3556G>T (p.Glu1186Ter)
Gene: NFASC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205016372G>T , CM000663.2:g.205016372G>T GRCh38
NC_000001.10:g.204985500G>T , CM000663.1:g.204985500G>T GRCh37
NC_000001.9:g.203252123G>T NCBI36
NG_029938.1:g.192719G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001005388.3:c.3556G>T MANE Select NP_001005388.2:p.Glu1186Ter
ENST00000339876.11:c.3556G>T MANE Select ENSP00000344786.6:p.Glu1186Ter
NM_001160331.2:c.3403G>T MANE Plus Clinical NP_001153803.1:p.Glu1135Ter
ENST00000539706.6:c.3403G>T MANE Plus Clinical ENSP00000438614.2:p.Glu1135Ter
NM_001005388.2:c.3556G>T NP_001005388.2:p.Glu1186Ter
NM_001160331.1:c.3403G>T NP_001153803.1:p.Glu1135Ter
NM_001160332.1:c.3358G>T NP_001153804.1:p.Glu1120Ter
NM_001160332.2:c.3358G>T NP_001153804.1:p.Glu1120Ter
NM_001365986.1:c.3022G>T NP_001352915.1:p.Glu1008Ter
NM_001378329.1:c.3877G>T NP_001365258.1:p.Glu1293Ter
NM_015090.3:c.3343G>T NP_055905.2:p.Glu1115Ter
NM_015090.4:c.3343G>T NP_055905.2:p.Glu1115Ter
ENST00000339876.10:c.3556G>T ENSP00000344786.6:p.Glu1186Ter
ENST00000360049.8:c.3343G>T ENSP00000353154.4:p.Glu1115Ter
ENST00000367173.7:c.2958G>T
ENST00000401399.5:c.3556G>T ENSP00000385637.1:p.Glu1186Ter
ENST00000404076.5:c.3307G>T ENSP00000385676.1:p.Glu1103Ter
ENST00000404907.5:c.3358G>T ENSP00000384061.1:p.Glu1120Ter
ENST00000413225.5:c.695G>T
ENST00000425360.5:c.729G>T
ENST00000430393.5:c.3331G>T ENSP00000415031.1:p.Glu1111Ter
ENST00000430393.6:c.3403G>T ENSP00000415031.2:p.Glu1135Ter
ENST00000430393.7:c.3358G>T ENSP00000415031.3:p.Glu1120Ter
ENST00000447819.1:c.490G>T ENSP00000416891.1:p.Glu164Ter
ENST00000495396.5:n.1460G>T
ENST00000503221.1:n.1379G>T
ENST00000504476.5:c.*2034G>T ENSP00000422524.1:n.*2034G>T
ENST00000513543.5:c.3343G>T ENSP00000425908.1:p.Glu1115Ter
ENST00000513543.6:c.3343G>T ENSP00000425908.1:p.Glu1115Ter
ENST00000539706.5:c.3358G>T ENSP00000438614.1:p.Glu1120Ter
XM_005244989.3:c.3634G>T XP_005245046.2:p.Glu1212Ter
XM_005244991.3:c.3589G>T XP_005245048.2:p.Glu1197Ter
XM_005244992.3:c.3574G>T XP_005245049.2:p.Glu1192Ter
XM_005244992.4:c.3574G>T XP_005245049.2:p.Glu1192Ter
XM_005244993.3:c.3538G>T XP_005245050.2:p.Glu1180Ter
XM_011509311.1:c.3913G>T XP_011507613.1:p.Glu1305Ter
XM_011509311.2:c.4360G>T XP_011507613.2:p.Glu1454Ter
XM_011509312.1:c.4141G>T XP_011507614.1:p.Glu1381Ter
XM_011509313.1:c.3883G>T XP_011507615.1:p.Glu1295Ter
XM_011509314.1:c.4090G>T XP_011507616.1:p.Glu1364Ter
XM_011509315.1:c.3832G>T XP_011507617.1:p.Glu1278Ter
XM_011509316.1:c.3928G>T XP_011507618.1:p.Glu1310Ter
XM_011509317.1:c.3775G>T XP_011507619.1:p.Glu1259Ter
XM_011509318.1:c.4216G>T XP_011507620.1:p.Glu1406Ter
XM_011509318.2:c.4216G>T XP_011507620.1:p.Glu1406Ter
XM_011509319.1:c.3877G>T XP_011507621.1:p.Glu1293Ter
XM_011509320.1:c.4165G>T XP_011507622.1:p.Glu1389Ter
XM_011509320.2:c.4165G>T XP_011507622.1:p.Glu1389Ter
XM_011509321.1:c.3691G>T XP_011507623.1:p.Glu1231Ter
XM_011509321.2:c.4138G>T XP_011507623.2:p.Glu1380Ter
XM_011509322.1:c.3658G>T XP_011507624.1:p.Glu1220Ter
XM_011509322.2:c.4105G>T XP_011507624.2:p.Glu1369Ter
XM_011509323.1:c.3607G>T XP_011507625.1:p.Glu1203Ter
XM_011509323.2:c.4054G>T XP_011507625.2:p.Glu1352Ter
XM_011509324.1:c.3421G>T XP_011507626.1:p.Glu1141Ter
XM_011509325.1:c.3406G>T XP_011507627.1:p.Glu1136Ter
XM_011509325.2:c.3853G>T XP_011507627.2:p.Glu1285Ter
XM_011509326.1:c.3100G>T XP_011507628.1:p.Glu1034Ter
XM_011509326.2:c.3547G>T XP_011507628.2:p.Glu1183Ter
XM_011509327.1:c.3085G>T XP_011507629.1:p.Glu1029Ter
XM_011509327.2:c.3532G>T XP_011507629.2:p.Glu1178Ter
XM_011509328.1:c.3049G>T XP_011507630.1:p.Glu1017Ter
XM_011509328.2:c.3496G>T XP_011507630.2:p.Glu1166Ter
XM_017000733.1:c.4096G>T XP_016856222.1:p.Glu1366Ter
XM_017000734.1:c.4045G>T XP_016856223.1:p.Glu1349Ter
XM_017000738.1:c.3664G>T XP_016856227.1:p.Glu1222Ter
XM_017000739.1:c.3649G>T XP_016856228.1:p.Glu1217Ter
XM_017000740.1:c.3328G>T XP_016856229.1:p.Glu1110Ter
XM_017000741.1:c.2767G>T XP_016856230.1:p.Glu923Ter
XM_017000742.2:c.2446G>T XP_016856231.1:p.Glu816Ter
XM_024454283.1:c.4375G>T XP_024310051.1:p.Glu1459Ter
XM_024454285.1:c.4330G>T XP_024310053.1:p.Glu1444Ter
XM_024454288.1:c.4324G>T XP_024310056.1:p.Glu1442Ter
XM_024454292.1:c.4279G>T XP_024310060.1:p.Glu1427Ter
XM_024454296.1:c.4003G>T XP_024310064.1:p.Glu1335Ter
XM_024454297.1:c.3868G>T XP_024310065.1:p.Glu1290Ter
XM_024454299.1:c.3823G>T XP_024310067.1:p.Glu1275Ter
XM_024454300.1:c.3556G>T XP_024310068.1:p.Glu1186Ter