ClinVar Variation:
COSMIC:
COSM1179814
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27561643 (SAS)
Genomes Max Group AF
0.26396832 (SAS)
Exomes Max Group AF
0.27565751 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184328682C>T , CM000665.2:g.184328682C>T | GRCh38 |
| NC_000003.11:g.184046470C>T , CM000665.1:g.184046470C>T | GRCh37 |
| NC_000003.10:g.185529164C>T | NCBI36 |
| NG_016850.1:g.19115C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.4005C>T (EIF4G1) MANE Select | ENSP00000316879.5:p.His1335= | |
| ENST00000435046.7:c.3939C>T (EIF4G1) | ENSP00000404754.3:p.His1313= | |
| ENST00000676453.1:c.3352C>T (EIF4G1) | ENSP00000501695.1:n.3352C>T | |
| ENST00000319274.10:c.3408C>T (EIF4G1) | ENSP00000323737.7:p.His1136= | |
| ENST00000342981.8:c.4008C>T (EIF4G1) | ENSP00000343450.4:p.His1336= | |
| ENST00000346169.6:c.4005C>T (EIF4G1) | ENSP00000316879.4:p.His1335= | |
| ENST00000350481.9:c.3513C>T (EIF4G1) | ENSP00000317600.8:p.His1171= | |
| ENST00000352767.7:c.4026C>T (EIF4G1) | ENSP00000338020.4:p.His1342= | |
| ENST00000382330.7:c.4026C>T (EIF4G1) | ENSP00000371767.3:p.His1342= | |
| ENST00000392537.6:c.3744C>T (EIF4G1) | ENSP00000376320.2:p.His1248= | |
| ENST00000411531.5:c.3888C>T (EIF4G1) | ENSP00000395974.1:p.His1296= | |
| ENST00000414031.5:c.3885C>T (EIF4G1) | ENSP00000391935.1:p.His1295= | |
| ENST00000422614.5:c.106C>T (EIF4G1) | ||
| ENST00000424196.5:c.4026C>T (EIF4G1) | ENSP00000416255.1:p.His1342= | |
| ENST00000427845.5:c.3747C>T (EIF4G1) | ENSP00000407682.1:p.His1249= | |
| ENST00000434061.6:c.3420C>T (EIF4G1) | ENSP00000411826.2:p.His1140= | |
| ENST00000435046.6:c.3417C>T (EIF4G1) | ENSP00000404754.2:p.His1139= | |
| ENST00000441154.5:c.3516C>T (EIF4G1) | ENSP00000399858.1:p.His1172= | |
| ENST00000442406.5:c.*3444C>T (EIF4G1) | ENSP00000400351.1:n.*3444C>T | |
| ENST00000444495.1:c.2106+183975C>T (EIF2B5) | ENSP00000409142.1:n.2106+183975C>T | |
| ENST00000460829.5:n.566C>T (EIF4G1) | ||
| ENST00000464548.1:n.14C>T (EIF4G1) | ||
| ENST00000475721.5:n.67C>T (EIF4G1) | ||
| NM_001194946.1:c.4026C>T (EIF4G1) | NP_001181875.1:p.His1342= | |
| NM_001194947.1:c.4026C>T (EIF4G1) | NP_001181876.1:p.His1342= | |
| NM_001291157.1:c.3885C>T (EIF4G1) | NP_001278086.1:p.His1295= | |
| NM_004953.4:c.3420C>T (EIF4G1) | NP_004944.3:p.His1140= | |
| NM_182917.4:c.4008C>T (EIF4G1) | NP_886553.3:p.His1336= | |
| NM_198241.2:c.4005C>T (EIF4G1) | NP_937884.1:p.His1335= | |
| NM_198242.2:c.3513C>T (EIF4G1) | NP_937885.1:p.His1171= | |
| NM_198244.2:c.3744C>T (EIF4G1) | NP_937887.1:p.His1248= | |
| NM_001194946.2:c.4026C>T (EIF4G1) | NP_001181875.2:p.His1342= | |
| NM_001291157.2:c.3885C>T (EIF4G1) | NP_001278086.2:p.His1295= | |
| NM_004953.5:c.3420C>T (EIF4G1) | NP_004944.3:p.His1140= | |
| NM_198241.3:c.4005C>T (EIF4G1) MANE Select | NP_937884.2:p.His1335= | |
| NM_198242.3:c.3513C>T (EIF4G1) | NP_937885.1:p.His1171= | |
| NM_198244.3:c.3744C>T (EIF4G1) | NP_937887.2:p.His1248= | |
| NM_001194947.2:c.4026C>T (EIF4G1) | NP_001181876.2:p.His1342= |