Linked Data
ClinVar Variation Id:
493380
ClinVar RCV Id:
RCV000585522
dbSNP Id:
rs1241165074
gnomAD v2:
3-184040396-C-T
gnomAD v3:
3-184322608-C-T
gnomAD v4:
3-184322608-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184322608C>T , CM000665.2:g.184322608C>T | GRCh38 |
| NC_000003.11:g.184040396C>T , CM000665.1:g.184040396C>T | GRCh37 |
| NC_000003.10:g.185523090C>T | NCBI36 |
| NG_016850.1:g.13041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.1673C>T (EIF4G1) MANE Select | ENSP00000316879.5:p.Ser558Phe | |
| ENST00000435046.7:c.1607C>T (EIF4G1) | ENSP00000404754.3:p.Ser536Phe | |
| ENST00000676453.1:c.1043C>T (EIF4G1) | ENSP00000501695.1:p.Ser348Phe | |
| ENST00000319274.10:c.1085C>T (EIF4G1) | ENSP00000323737.7:p.Ser362Phe | |
| ENST00000342981.8:c.1673C>T (EIF4G1) | ENSP00000343450.4:p.Ser558Phe | |
| ENST00000346169.6:c.1673C>T (EIF4G1) | ENSP00000316879.4:p.Ser558Phe | |
| ENST00000350481.9:c.1181C>T (EIF4G1) | ENSP00000317600.8:p.Ser394Phe | |
| ENST00000352767.7:c.1694C>T (EIF4G1) | ENSP00000338020.4:p.Ser565Phe | |
| ENST00000382330.7:c.1694C>T (EIF4G1) | ENSP00000371767.3:p.Ser565Phe | |
| ENST00000392537.6:c.1412C>T (EIF4G1) | ENSP00000376320.2:p.Ser471Phe | |
| ENST00000411531.5:c.1553C>T (EIF4G1) | ENSP00000395974.1:p.Ser518Phe | |
| ENST00000413967.5:c.*1180C>T (EIF4G1) | ENSP00000390755.1:n.*1180C>T | |
| ENST00000414031.5:c.1553C>T (EIF4G1) | ENSP00000391935.1:p.Ser518Phe | |
| ENST00000421110.5:c.1694C>T (EIF4G1) | ENSP00000413159.1:p.Ser565Phe | |
| ENST00000424196.5:c.1694C>T (EIF4G1) | ENSP00000416255.1:p.Ser565Phe | |
| ENST00000426123.5:c.1496C>T (EIF4G1) | ENSP00000403269.1:p.Ser499Phe | |
| ENST00000427845.5:c.1412C>T (EIF4G1) | ENSP00000407682.1:p.Ser471Phe | |
| ENST00000434061.6:c.1085C>T (EIF4G1) | ENSP00000411826.2:p.Ser362Phe | |
| ENST00000435046.6:c.1085C>T (EIF4G1) | ENSP00000404754.2:p.Ser362Phe | |
| ENST00000441154.5:c.1181C>T (EIF4G1) | ENSP00000399858.1:p.Ser394Phe | |
| ENST00000442406.5:c.*1112C>T (EIF4G1) | ENSP00000400351.1:n.*1112C>T | |
| ENST00000444495.1:c.2106+177901C>T (EIF2B5) | ENSP00000409142.1:n.2106+177901C>T | |
| ENST00000444861.5:c.1181C>T (EIF4G1) | ENSP00000398145.1:p.Ser394Phe | |
| ENST00000450424.5:c.1673C>T (EIF4G1) | ENSP00000391412.1:p.Ser558Phe | |
| NM_001194946.1:c.1694C>T (EIF4G1) | NP_001181875.1:p.Ser565Phe | |
| NM_001194947.1:c.1694C>T (EIF4G1) | NP_001181876.1:p.Ser565Phe | |
| NM_001291157.1:c.1553C>T (EIF4G1) | NP_001278086.1:p.Ser518Phe | |
| NM_004953.4:c.1085C>T (EIF4G1) | NP_004944.3:p.Ser362Phe | |
| NM_182917.4:c.1673C>T (EIF4G1) | NP_886553.3:p.Ser558Phe | |
| NM_198241.2:c.1673C>T (EIF4G1) | NP_937884.1:p.Ser558Phe | |
| NM_198242.2:c.1181C>T (EIF4G1) | NP_937885.1:p.Ser394Phe | |
| NM_198244.2:c.1412C>T (EIF4G1) | NP_937887.1:p.Ser471Phe | |
| NM_001194946.2:c.1694C>T (EIF4G1) | NP_001181875.2:p.Ser565Phe | |
| NM_001291157.2:c.1553C>T (EIF4G1) | NP_001278086.2:p.Ser518Phe | |
| NM_004953.5:c.1085C>T (EIF4G1) | NP_004944.3:p.Ser362Phe | |
| NM_198241.3:c.1673C>T (EIF4G1) MANE Select | NP_937884.2:p.Ser558Phe | |
| NM_198242.3:c.1181C>T (EIF4G1) | NP_937885.1:p.Ser394Phe | |
| NM_198244.3:c.1412C>T (EIF4G1) | NP_937887.2:p.Ser471Phe | |
| NM_001194947.2:c.1694C>T (EIF4G1) | NP_001181876.2:p.Ser565Phe |