Canonical Allele Identifier: CA355415154

Gene: EIF4G1 EIF2B5

Linked Data

• dbSNP Id: rs1317652418
• gnomAD v3: 3-184327377-G-T
• gnomAD v4: 3-184327377-G-T
• MyVariant Identifiers: chr3:g.184045165G>T (hg19) ; chr3:g.184327377G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327377G>T , CM000665.2:g.184327377G>T	GRCh38
NC_000003.11:g.184045165G>T , CM000665.1:g.184045165G>T	GRCh37
NC_000003.10:g.185527859G>T	NCBI36
NG_016850.1:g.17810G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3590G>T (EIF4G1) MANE Select	ENSP00000316879.5:p.Arg1197Leu
ENST00000435046.7:c.3524G>T (EIF4G1)	ENSP00000404754.3:p.Arg1175Leu
ENST00000676453.1:c.2937G>T (EIF4G1)	ENSP00000501695.1:n.2937G>T
ENST00000319274.10:c.2993G>T (EIF4G1)	ENSP00000323737.7:p.Arg998Leu
ENST00000342981.8:c.3593G>T (EIF4G1)	ENSP00000343450.4:p.Arg1198Leu
ENST00000346169.6:c.3590G>T (EIF4G1)	ENSP00000316879.4:p.Arg1197Leu
ENST00000350481.9:c.3098G>T (EIF4G1)	ENSP00000317600.8:p.Arg1033Leu
ENST00000352767.7:c.3611G>T (EIF4G1)	ENSP00000338020.4:p.Arg1204Leu
ENST00000382330.7:c.3611G>T (EIF4G1)	ENSP00000371767.3:p.Arg1204Leu
ENST00000392537.6:c.3329G>T (EIF4G1)	ENSP00000376320.2:p.Arg1110Leu
ENST00000411531.5:c.3473G>T (EIF4G1)	ENSP00000395974.1:p.Arg1158Leu
ENST00000414031.5:c.3470G>T (EIF4G1)	ENSP00000391935.1:p.Arg1157Leu
ENST00000424196.5:c.3611G>T (EIF4G1)	ENSP00000416255.1:p.Arg1204Leu
ENST00000427845.5:c.3332G>T (EIF4G1)	ENSP00000407682.1:p.Arg1111Leu
ENST00000434061.6:c.3005G>T (EIF4G1)	ENSP00000411826.2:p.Arg1002Leu
ENST00000435046.6:c.3002G>T (EIF4G1)	ENSP00000404754.2:p.Arg1001Leu
ENST00000441154.5:c.3101G>T (EIF4G1)	ENSP00000399858.1:p.Arg1034Leu
ENST00000442406.5:c.*3029G>T (EIF4G1)	ENSP00000400351.1:n.*3029G>T
ENST00000444495.1:c.2106+182670G>T (EIF2B5)	ENSP00000409142.1:n.2106+182670G>T
ENST00000482303.1:n.92G>T (EIF4G1)
NM_001194946.1:c.3611G>T (EIF4G1)	NP_001181875.1:p.Arg1204Leu
NM_001194947.1:c.3611G>T (EIF4G1)	NP_001181876.1:p.Arg1204Leu
NM_001291157.1:c.3470G>T (EIF4G1)	NP_001278086.1:p.Arg1157Leu
NM_004953.4:c.3005G>T (EIF4G1)	NP_004944.3:p.Arg1002Leu
NM_182917.4:c.3593G>T (EIF4G1)	NP_886553.3:p.Arg1198Leu
NM_198241.2:c.3590G>T (EIF4G1)	NP_937884.1:p.Arg1197Leu
NM_198242.2:c.3098G>T (EIF4G1)	NP_937885.1:p.Arg1033Leu
NM_198244.2:c.3329G>T (EIF4G1)	NP_937887.1:p.Arg1110Leu
NM_001194946.2:c.3611G>T (EIF4G1)	NP_001181875.2:p.Arg1204Leu
NM_001291157.2:c.3470G>T (EIF4G1)	NP_001278086.2:p.Arg1157Leu
NM_004953.5:c.3005G>T (EIF4G1)	NP_004944.3:p.Arg1002Leu
NM_198241.3:c.3590G>T (EIF4G1) MANE Select	NP_937884.2:p.Arg1197Leu
NM_198242.3:c.3098G>T (EIF4G1)	NP_937885.1:p.Arg1033Leu
NM_198244.3:c.3329G>T (EIF4G1)	NP_937887.2:p.Arg1110Leu
NM_001194947.2:c.3611G>T (EIF4G1)	NP_001181876.2:p.Arg1204Leu