Canonical Allele Identifier: CA2732856

Gene: EIF4G1 EIF2B5

Linked Data

• dbSNP Id: rs776741558
• ExAC: 3:184045188 C / T
• gnomAD v2: 3-184045188-C-T
• gnomAD v4: 3-184327400-C-T
• COSMIC: COSM4764100
• MyVariant Identifiers: chr3:g.184045188C>T (hg19) ; chr3:g.184327400C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327400C>T , CM000665.2:g.184327400C>T	GRCh38
NC_000003.11:g.184045188C>T , CM000665.1:g.184045188C>T	GRCh37
NC_000003.10:g.185527882C>T	NCBI36
NG_016850.1:g.17833C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000346169.7:c.3613C>T (EIF4G1) MANE Select	ENSP00000316879.5:p.Arg1205Cys
ENST00000435046.7:c.3547C>T (EIF4G1)	ENSP00000404754.3:p.Arg1183Cys
ENST00000676453.1:c.2960C>T (EIF4G1)	ENSP00000501695.1:n.2960C>T
ENST00000319274.10:c.3016C>T (EIF4G1)	ENSP00000323737.7:p.Arg1006Cys
ENST00000342981.8:c.3616C>T (EIF4G1)	ENSP00000343450.4:p.Arg1206Cys
ENST00000346169.6:c.3613C>T (EIF4G1)	ENSP00000316879.4:p.Arg1205Cys
ENST00000350481.9:c.3121C>T (EIF4G1)	ENSP00000317600.8:p.Arg1041Cys
ENST00000352767.7:c.3634C>T (EIF4G1)	ENSP00000338020.4:p.Arg1212Cys
ENST00000382330.7:c.3634C>T (EIF4G1)	ENSP00000371767.3:p.Arg1212Cys
ENST00000392537.6:c.3352C>T (EIF4G1)	ENSP00000376320.2:p.Arg1118Cys
ENST00000411531.5:c.3496C>T (EIF4G1)	ENSP00000395974.1:p.Arg1166Cys
ENST00000414031.5:c.3493C>T (EIF4G1)	ENSP00000391935.1:p.Arg1165Cys
ENST00000424196.5:c.3634C>T (EIF4G1)	ENSP00000416255.1:p.Arg1212Cys
ENST00000427845.5:c.3355C>T (EIF4G1)	ENSP00000407682.1:p.Arg1119Cys
ENST00000434061.6:c.3028C>T (EIF4G1)	ENSP00000411826.2:p.Arg1010Cys
ENST00000435046.6:c.3025C>T (EIF4G1)	ENSP00000404754.2:p.Arg1009Cys
ENST00000441154.5:c.3124C>T (EIF4G1)	ENSP00000399858.1:p.Arg1042Cys
ENST00000442406.5:c.*3052C>T (EIF4G1)	ENSP00000400351.1:n.*3052C>T
ENST00000444495.1:c.2106+182693C>T (EIF2B5)	ENSP00000409142.1:n.2106+182693C>T
ENST00000482303.1:n.115C>T (EIF4G1)
NM_001194946.1:c.3634C>T (EIF4G1)	NP_001181875.1:p.Arg1212Cys
NM_001194947.1:c.3634C>T (EIF4G1)	NP_001181876.1:p.Arg1212Cys
NM_001291157.1:c.3493C>T (EIF4G1)	NP_001278086.1:p.Arg1165Cys
NM_004953.4:c.3028C>T (EIF4G1)	NP_004944.3:p.Arg1010Cys
NM_182917.4:c.3616C>T (EIF4G1)	NP_886553.3:p.Arg1206Cys
NM_198241.2:c.3613C>T (EIF4G1)	NP_937884.1:p.Arg1205Cys
NM_198242.2:c.3121C>T (EIF4G1)	NP_937885.1:p.Arg1041Cys
NM_198244.2:c.3352C>T (EIF4G1)	NP_937887.1:p.Arg1118Cys
NM_001194946.2:c.3634C>T (EIF4G1)	NP_001181875.2:p.Arg1212Cys
NM_001291157.2:c.3493C>T (EIF4G1)	NP_001278086.2:p.Arg1165Cys
NM_004953.5:c.3028C>T (EIF4G1)	NP_004944.3:p.Arg1010Cys
NM_198241.3:c.3613C>T (EIF4G1) MANE Select	NP_937884.2:p.Arg1205Cys
NM_198242.3:c.3121C>T (EIF4G1)	NP_937885.1:p.Arg1041Cys
NM_198244.3:c.3352C>T (EIF4G1)	NP_937887.2:p.Arg1118Cys
NM_001194947.2:c.3634C>T (EIF4G1)	NP_001181876.2:p.Arg1212Cys