Canonical Allele Identifier: CA437330540

Gene: EIF4G1 EIF2B5

Linked Data

• dbSNP Id: rs1432008261
• gnomAD v2: 3-184045387-T-C
• gnomAD v4: 3-184327599-T-C
• MyVariant Identifiers: chr3:g.184045387T>C (hg19) ; chr3:g.184327599T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327599T>C , CM000665.2:g.184327599T>C	GRCh38
NC_000003.11:g.184045387T>C , CM000665.1:g.184045387T>C	GRCh37
NC_000003.10:g.185528081T>C	NCBI36
NG_016850.1:g.18032T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3675T>C (EIF4G1) MANE Select	ENSP00000316879.5:p.Ala1225=
ENST00000435046.7:c.3609T>C (EIF4G1)	ENSP00000404754.3:p.Ala1203=
ENST00000676453.1:c.3022T>C (EIF4G1)	ENSP00000501695.1:n.3022T>C
ENST00000319274.10:c.3078T>C (EIF4G1)	ENSP00000323737.7:p.Ala1026=
ENST00000342981.8:c.3678T>C (EIF4G1)	ENSP00000343450.4:p.Ala1226=
ENST00000346169.6:c.3675T>C (EIF4G1)	ENSP00000316879.4:p.Ala1225=
ENST00000350481.9:c.3183T>C (EIF4G1)	ENSP00000317600.8:p.Ala1061=
ENST00000352767.7:c.3696T>C (EIF4G1)	ENSP00000338020.4:p.Ala1232=
ENST00000382330.7:c.3696T>C (EIF4G1)	ENSP00000371767.3:p.Ala1232=
ENST00000392537.6:c.3414T>C (EIF4G1)	ENSP00000376320.2:p.Ala1138=
ENST00000411531.5:c.3558T>C (EIF4G1)	ENSP00000395974.1:p.Ala1186=
ENST00000414031.5:c.3555T>C (EIF4G1)	ENSP00000391935.1:p.Ala1185=
ENST00000424196.5:c.3696T>C (EIF4G1)	ENSP00000416255.1:p.Ala1232=
ENST00000427845.5:c.3417T>C (EIF4G1)	ENSP00000407682.1:p.Ala1139=
ENST00000434061.6:c.3090T>C (EIF4G1)	ENSP00000411826.2:p.Ala1030=
ENST00000435046.6:c.3087T>C (EIF4G1)	ENSP00000404754.2:p.Ala1029=
ENST00000441154.5:c.3186T>C (EIF4G1)	ENSP00000399858.1:p.Ala1062=
ENST00000442406.5:c.*3114T>C (EIF4G1)	ENSP00000400351.1:n.*3114T>C
ENST00000444495.1:c.2106+182892T>C (EIF2B5)	ENSP00000409142.1:n.2106+182892T>C
ENST00000482303.1:n.177T>C (EIF4G1)
NM_001194946.1:c.3696T>C (EIF4G1)	NP_001181875.1:p.Ala1232=
NM_001194947.1:c.3696T>C (EIF4G1)	NP_001181876.1:p.Ala1232=
NM_001291157.1:c.3555T>C (EIF4G1)	NP_001278086.1:p.Ala1185=
NM_004953.4:c.3090T>C (EIF4G1)	NP_004944.3:p.Ala1030=
NM_182917.4:c.3678T>C (EIF4G1)	NP_886553.3:p.Ala1226=
NM_198241.2:c.3675T>C (EIF4G1)	NP_937884.1:p.Ala1225=
NM_198242.2:c.3183T>C (EIF4G1)	NP_937885.1:p.Ala1061=
NM_198244.2:c.3414T>C (EIF4G1)	NP_937887.1:p.Ala1138=
NM_001194946.2:c.3696T>C (EIF4G1)	NP_001181875.2:p.Ala1232=
NM_001291157.2:c.3555T>C (EIF4G1)	NP_001278086.2:p.Ala1185=
NM_004953.5:c.3090T>C (EIF4G1)	NP_004944.3:p.Ala1030=
NM_198241.3:c.3675T>C (EIF4G1) MANE Select	NP_937884.2:p.Ala1225=
NM_198242.3:c.3183T>C (EIF4G1)	NP_937885.1:p.Ala1061=
NM_198244.3:c.3414T>C (EIF4G1)	NP_937887.2:p.Ala1138=
NM_001194947.2:c.3696T>C (EIF4G1)	NP_001181876.2:p.Ala1232=