Canonical Allele Identifier: CA437330584
Gene: EIF4G1 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.184045420T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184327632T>C , CM000665.2:g.184327632T>C GRCh38
NC_000003.11:g.184045420T>C , CM000665.1:g.184045420T>C GRCh37
NC_000003.10:g.185528114T>C NCBI36
NG_016850.1:g.18065T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346169.7:c.3708T>C (EIF4G1) MANE Select ENSP00000316879.5:p.Ala1236=
ENST00000435046.7:c.3642T>C (EIF4G1) ENSP00000404754.3:p.Ala1214=
ENST00000676453.1:c.3055T>C (EIF4G1) ENSP00000501695.1:n.3055T>C
ENST00000319274.10:c.3111T>C (EIF4G1) ENSP00000323737.7:p.Ala1037=
ENST00000342981.8:c.3711T>C (EIF4G1) ENSP00000343450.4:p.Ala1237=
ENST00000346169.6:c.3708T>C (EIF4G1) ENSP00000316879.4:p.Ala1236=
ENST00000350481.9:c.3216T>C (EIF4G1) ENSP00000317600.8:p.Ala1072=
ENST00000352767.7:c.3729T>C (EIF4G1) ENSP00000338020.4:p.Ala1243=
ENST00000382330.7:c.3729T>C (EIF4G1) ENSP00000371767.3:p.Ala1243=
ENST00000392537.6:c.3447T>C (EIF4G1) ENSP00000376320.2:p.Ala1149=
ENST00000411531.5:c.3591T>C (EIF4G1) ENSP00000395974.1:p.Ala1197=
ENST00000414031.5:c.3588T>C (EIF4G1) ENSP00000391935.1:p.Ala1196=
ENST00000424196.5:c.3729T>C (EIF4G1) ENSP00000416255.1:p.Ala1243=
ENST00000427845.5:c.3450T>C (EIF4G1) ENSP00000407682.1:p.Ala1150=
ENST00000434061.6:c.3123T>C (EIF4G1) ENSP00000411826.2:p.Ala1041=
ENST00000435046.6:c.3120T>C (EIF4G1) ENSP00000404754.2:p.Ala1040=
ENST00000441154.5:c.3219T>C (EIF4G1) ENSP00000399858.1:p.Ala1073=
ENST00000442406.5:c.*3147T>C (EIF4G1) ENSP00000400351.1:n.*3147T>C
ENST00000444495.1:c.2106+182925T>C (EIF2B5) ENSP00000409142.1:n.2106+182925T>C
ENST00000482303.1:n.210T>C (EIF4G1)
NM_001194946.1:c.3729T>C (EIF4G1) NP_001181875.1:p.Ala1243=
NM_001194947.1:c.3729T>C (EIF4G1) NP_001181876.1:p.Ala1243=
NM_001291157.1:c.3588T>C (EIF4G1) NP_001278086.1:p.Ala1196=
NM_004953.4:c.3123T>C (EIF4G1) NP_004944.3:p.Ala1041=
NM_182917.4:c.3711T>C (EIF4G1) NP_886553.3:p.Ala1237=
NM_198241.2:c.3708T>C (EIF4G1) NP_937884.1:p.Ala1236=
NM_198242.2:c.3216T>C (EIF4G1) NP_937885.1:p.Ala1072=
NM_198244.2:c.3447T>C (EIF4G1) NP_937887.1:p.Ala1149=
NM_001194946.2:c.3729T>C (EIF4G1) NP_001181875.2:p.Ala1243=
NM_001291157.2:c.3588T>C (EIF4G1) NP_001278086.2:p.Ala1196=
NM_004953.5:c.3123T>C (EIF4G1) NP_004944.3:p.Ala1041=
NM_198241.3:c.3708T>C (EIF4G1) MANE Select NP_937884.2:p.Ala1236=
NM_198242.3:c.3216T>C (EIF4G1) NP_937885.1:p.Ala1072=
NM_198244.3:c.3447T>C (EIF4G1) NP_937887.2:p.Ala1149=
NM_001194947.2:c.3729T>C (EIF4G1) NP_001181876.2:p.Ala1243=