Canonical Allele Identifier: CA2732828

Gene: EIF4G1 EIF2B5

Linked Data

• ClinVar Variation Id: 2411196
• ClinVar RCV Id: RCV002779470
• dbSNP Id: rs753305744
• ExAC: 3:184045072 G / A
• gnomAD v2: 3-184045072-G-A
• gnomAD v3: 3-184327284-G-A
• gnomAD v4: 3-184327284-G-A
• MyVariant Identifiers: chr3:g.184045072G>A (hg19) ; chr3:g.184327284G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327284G>A , CM000665.2:g.184327284G>A	GRCh38
NC_000003.11:g.184045072G>A , CM000665.1:g.184045072G>A	GRCh37
NC_000003.10:g.185527766G>A	NCBI36
NG_016850.1:g.17717G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000346169.7:c.3497G>A (EIF4G1) MANE Select	ENSP00000316879.5:p.Arg1166Gln
ENST00000435046.7:c.3431G>A (EIF4G1)	ENSP00000404754.3:p.Arg1144Gln
ENST00000676453.1:c.2844G>A (EIF4G1)	ENSP00000501695.1:n.2844G>A
ENST00000319274.10:c.2902G>A (EIF4G1)	ENSP00000323737.7:p.Gly968Arg
ENST00000342981.8:c.3500G>A (EIF4G1)	ENSP00000343450.4:p.Arg1167Gln
ENST00000346169.6:c.3497G>A (EIF4G1)	ENSP00000316879.4:p.Arg1166Gln
ENST00000350481.9:c.3005G>A (EIF4G1)	ENSP00000317600.8:p.Arg1002Gln
ENST00000352767.7:c.3518G>A (EIF4G1)	ENSP00000338020.4:p.Arg1173Gln
ENST00000382330.7:c.3518G>A (EIF4G1)	ENSP00000371767.3:p.Arg1173Gln
ENST00000392537.6:c.3236G>A (EIF4G1)	ENSP00000376320.2:p.Arg1079Gln
ENST00000411531.5:c.3380G>A (EIF4G1)	ENSP00000395974.1:p.Arg1127Gln
ENST00000414031.5:c.3377G>A (EIF4G1)	ENSP00000391935.1:p.Arg1126Gln
ENST00000424196.5:c.3518G>A (EIF4G1)	ENSP00000416255.1:p.Arg1173Gln
ENST00000427845.5:c.3239G>A (EIF4G1)	ENSP00000407682.1:p.Arg1080Gln
ENST00000434061.6:c.2912G>A (EIF4G1)	ENSP00000411826.2:p.Arg971Gln
ENST00000435046.6:c.2909G>A (EIF4G1)	ENSP00000404754.2:p.Arg970Gln
ENST00000441154.5:c.3008G>A (EIF4G1)	ENSP00000399858.1:p.Arg1003Gln
ENST00000442406.5:c.*2936G>A (EIF4G1)	ENSP00000400351.1:n.*2936G>A
ENST00000444495.1:c.2106+182577G>A (EIF2B5)	ENSP00000409142.1:n.2106+182577G>A
ENST00000448284.1:c.658G>A (EIF4G1)
NM_001194946.1:c.3518G>A (EIF4G1)	NP_001181875.1:p.Arg1173Gln
NM_001194947.1:c.3518G>A (EIF4G1)	NP_001181876.1:p.Arg1173Gln
NM_001291157.1:c.3377G>A (EIF4G1)	NP_001278086.1:p.Arg1126Gln
NM_004953.4:c.2912G>A (EIF4G1)	NP_004944.3:p.Arg971Gln
NM_182917.4:c.3500G>A (EIF4G1)	NP_886553.3:p.Arg1167Gln
NM_198241.2:c.3497G>A (EIF4G1)	NP_937884.1:p.Arg1166Gln
NM_198242.2:c.3005G>A (EIF4G1)	NP_937885.1:p.Arg1002Gln
NM_198244.2:c.3236G>A (EIF4G1)	NP_937887.1:p.Arg1079Gln
NM_001194946.2:c.3518G>A (EIF4G1)	NP_001181875.2:p.Arg1173Gln
NM_001291157.2:c.3377G>A (EIF4G1)	NP_001278086.2:p.Arg1126Gln
NM_004953.5:c.2912G>A (EIF4G1)	NP_004944.3:p.Arg971Gln
NM_198241.3:c.3497G>A (EIF4G1) MANE Select	NP_937884.2:p.Arg1166Gln
NM_198242.3:c.3005G>A (EIF4G1)	NP_937885.1:p.Arg1002Gln
NM_198244.3:c.3236G>A (EIF4G1)	NP_937887.2:p.Arg1079Gln
NM_001194947.2:c.3518G>A (EIF4G1)	NP_001181876.2:p.Arg1173Gln