gnomAD v4:
Revel Score:
ENST00000346169 (MANE Select)
0.431
ENST00000414031
0.431
ENST00000392537
0.431
ENST00000382330
0.431
ENST00000350481
0.431
ENST00000352767
0.431
ENST00000427845
0.431
ENST00000342981
0.431
ENST00000319274
0.431
ENST00000424196
0.431
ENST00000411531
0.431
ENST00000441154
0.431
ENST00000434061
0.431
ENST00000435046
0.431
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184328682C>A , CM000665.2:g.184328682C>A | GRCh38 |
| NC_000003.11:g.184046470C>A , CM000665.1:g.184046470C>A | GRCh37 |
| NC_000003.10:g.185529164C>A | NCBI36 |
| NG_016850.1:g.19115C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.4005C>A (EIF4G1) MANE Select | ENSP00000316879.5:p.His1335Gln | |
| ENST00000435046.7:c.3939C>A (EIF4G1) | ENSP00000404754.3:p.His1313Gln | |
| ENST00000676453.1:c.3352C>A (EIF4G1) | ENSP00000501695.1:n.3352C>A | |
| ENST00000319274.10:c.3408C>A (EIF4G1) | ENSP00000323737.7:p.His1136Gln | |
| ENST00000342981.8:c.4008C>A (EIF4G1) | ENSP00000343450.4:p.His1336Gln | |
| ENST00000346169.6:c.4005C>A (EIF4G1) | ENSP00000316879.4:p.His1335Gln | |
| ENST00000350481.9:c.3513C>A (EIF4G1) | ENSP00000317600.8:p.His1171Gln | |
| ENST00000352767.7:c.4026C>A (EIF4G1) | ENSP00000338020.4:p.His1342Gln | |
| ENST00000382330.7:c.4026C>A (EIF4G1) | ENSP00000371767.3:p.His1342Gln | |
| ENST00000392537.6:c.3744C>A (EIF4G1) | ENSP00000376320.2:p.His1248Gln | |
| ENST00000411531.5:c.3888C>A (EIF4G1) | ENSP00000395974.1:p.His1296Gln | |
| ENST00000414031.5:c.3885C>A (EIF4G1) | ENSP00000391935.1:p.His1295Gln | |
| ENST00000422614.5:c.106C>A (EIF4G1) | ||
| ENST00000424196.5:c.4026C>A (EIF4G1) | ENSP00000416255.1:p.His1342Gln | |
| ENST00000427845.5:c.3747C>A (EIF4G1) | ENSP00000407682.1:p.His1249Gln | |
| ENST00000434061.6:c.3420C>A (EIF4G1) | ENSP00000411826.2:p.His1140Gln | |
| ENST00000435046.6:c.3417C>A (EIF4G1) | ENSP00000404754.2:p.His1139Gln | |
| ENST00000441154.5:c.3516C>A (EIF4G1) | ENSP00000399858.1:p.His1172Gln | |
| ENST00000442406.5:c.*3444C>A (EIF4G1) | ENSP00000400351.1:n.*3444C>A | |
| ENST00000444495.1:c.2106+183975C>A (EIF2B5) | ENSP00000409142.1:n.2106+183975C>A | |
| ENST00000460829.5:n.566C>A (EIF4G1) | ||
| ENST00000464548.1:n.14C>A (EIF4G1) | ||
| ENST00000475721.5:n.67C>A (EIF4G1) | ||
| NM_001194946.1:c.4026C>A (EIF4G1) | NP_001181875.1:p.His1342Gln | |
| NM_001194947.1:c.4026C>A (EIF4G1) | NP_001181876.1:p.His1342Gln | |
| NM_001291157.1:c.3885C>A (EIF4G1) | NP_001278086.1:p.His1295Gln | |
| NM_004953.4:c.3420C>A (EIF4G1) | NP_004944.3:p.His1140Gln | |
| NM_182917.4:c.4008C>A (EIF4G1) | NP_886553.3:p.His1336Gln | |
| NM_198241.2:c.4005C>A (EIF4G1) | NP_937884.1:p.His1335Gln | |
| NM_198242.2:c.3513C>A (EIF4G1) | NP_937885.1:p.His1171Gln | |
| NM_198244.2:c.3744C>A (EIF4G1) | NP_937887.1:p.His1248Gln | |
| NM_001194946.2:c.4026C>A (EIF4G1) | NP_001181875.2:p.His1342Gln | |
| NM_001291157.2:c.3885C>A (EIF4G1) | NP_001278086.2:p.His1295Gln | |
| NM_004953.5:c.3420C>A (EIF4G1) | NP_004944.3:p.His1140Gln | |
| NM_198241.3:c.4005C>A (EIF4G1) MANE Select | NP_937884.2:p.His1335Gln | |
| NM_198242.3:c.3513C>A (EIF4G1) | NP_937885.1:p.His1171Gln | |
| NM_198244.3:c.3744C>A (EIF4G1) | NP_937887.2:p.His1248Gln | |
| NM_001194947.2:c.4026C>A (EIF4G1) | NP_001181876.2:p.His1342Gln |