Canonical Allele Identifier: CA88867551

Gene: EIF4G1 EIF2B5

Linked Data

• dbSNP Id: rs113169049
• gnomAD v2: 3-184045065-A-C
• gnomAD v3: 3-184327277-A-C
• gnomAD v4: 3-184327277-A-C
• MyVariant Identifiers: chr3:g.184045065A>C (hg19) ; chr3:g.184327277A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327277A>C , CM000665.2:g.184327277A>C	GRCh38
NC_000003.11:g.184045065A>C , CM000665.1:g.184045065A>C	GRCh37
NC_000003.10:g.185527759A>C	NCBI36
NG_016850.1:g.17710A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000346169.7:c.3490A>C (EIF4G1) MANE Select	ENSP00000316879.5:p.Ser1164Arg
ENST00000435046.7:c.3424A>C (EIF4G1)	ENSP00000404754.3:p.Ser1142Arg
ENST00000676453.1:c.2837A>C (EIF4G1)	ENSP00000501695.1:n.2837A>C
ENST00000319274.10:c.2896-1A>C (EIF4G1)	ENSP00000323737.7:n.2896-1A>C
ENST00000342981.8:c.3493A>C (EIF4G1)	ENSP00000343450.4:p.Ser1165Arg
ENST00000346169.6:c.3490A>C (EIF4G1)	ENSP00000316879.4:p.Ser1164Arg
ENST00000350481.9:c.2998A>C (EIF4G1)	ENSP00000317600.8:p.Ser1000Arg
ENST00000352767.7:c.3511A>C (EIF4G1)	ENSP00000338020.4:p.Ser1171Arg
ENST00000382330.7:c.3511A>C (EIF4G1)	ENSP00000371767.3:p.Ser1171Arg
ENST00000392537.6:c.3229A>C (EIF4G1)	ENSP00000376320.2:p.Ser1077Arg
ENST00000411531.5:c.3373A>C (EIF4G1)	ENSP00000395974.1:p.Ser1125Arg
ENST00000414031.5:c.3370A>C (EIF4G1)	ENSP00000391935.1:p.Ser1124Arg
ENST00000424196.5:c.3511A>C (EIF4G1)	ENSP00000416255.1:p.Ser1171Arg
ENST00000427845.5:c.3232A>C (EIF4G1)	ENSP00000407682.1:p.Ser1078Arg
ENST00000434061.6:c.2905A>C (EIF4G1)	ENSP00000411826.2:p.Ser969Arg
ENST00000435046.6:c.2902A>C (EIF4G1)	ENSP00000404754.2:p.Ser968Arg
ENST00000441154.5:c.3001A>C (EIF4G1)	ENSP00000399858.1:p.Ser1001Arg
ENST00000442406.5:c.*2929A>C (EIF4G1)	ENSP00000400351.1:n.*2929A>C
ENST00000444495.1:c.2106+182570A>C (EIF2B5)	ENSP00000409142.1:n.2106+182570A>C
ENST00000448284.1:c.651A>C (EIF4G1)
NM_001194946.1:c.3511A>C (EIF4G1)	NP_001181875.1:p.Ser1171Arg
NM_001194947.1:c.3511A>C (EIF4G1)	NP_001181876.1:p.Ser1171Arg
NM_001291157.1:c.3370A>C (EIF4G1)	NP_001278086.1:p.Ser1124Arg
NM_004953.4:c.2905A>C (EIF4G1)	NP_004944.3:p.Ser969Arg
NM_182917.4:c.3493A>C (EIF4G1)	NP_886553.3:p.Ser1165Arg
NM_198241.2:c.3490A>C (EIF4G1)	NP_937884.1:p.Ser1164Arg
NM_198242.2:c.2998A>C (EIF4G1)	NP_937885.1:p.Ser1000Arg
NM_198244.2:c.3229A>C (EIF4G1)	NP_937887.1:p.Ser1077Arg
NM_001194946.2:c.3511A>C (EIF4G1)	NP_001181875.2:p.Ser1171Arg
NM_001291157.2:c.3370A>C (EIF4G1)	NP_001278086.2:p.Ser1124Arg
NM_004953.5:c.2905A>C (EIF4G1)	NP_004944.3:p.Ser969Arg
NM_198241.3:c.3490A>C (EIF4G1) MANE Select	NP_937884.2:p.Ser1164Arg
NM_198242.3:c.2998A>C (EIF4G1)	NP_937885.1:p.Ser1000Arg
NM_198244.3:c.3229A>C (EIF4G1)	NP_937887.2:p.Ser1077Arg
NM_001194947.2:c.3511A>C (EIF4G1)	NP_001181876.2:p.Ser1171Arg