Canonical Allele Identifier: CA355413139

Gene: EIF4G1 EIF2B5

Linked Data

• dbSNP Id: rs1195857332
• gnomAD v2: 3-184044697-T-G
• gnomAD v4: 3-184326909-T-G
• MyVariant Identifiers: chr3:g.184044697T>G (hg19) ; chr3:g.184326909T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184326909T>G , CM000665.2:g.184326909T>G	GRCh38
NC_000003.11:g.184044697T>G , CM000665.1:g.184044697T>G	GRCh37
NC_000003.10:g.185527391T>G	NCBI36
NG_016850.1:g.17342T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3354T>G (EIF4G1) MANE Select	ENSP00000316879.5:p.Ser1118Arg
ENST00000435046.7:c.3288T>G (EIF4G1)	ENSP00000404754.3:p.Ser1096Arg
ENST00000676453.1:c.2701T>G (EIF4G1)	ENSP00000501695.1:n.2701T>G
ENST00000319274.10:c.2760T>G (EIF4G1)	ENSP00000323737.7:p.Ser920Arg
ENST00000342981.8:c.3357T>G (EIF4G1)	ENSP00000343450.4:p.Ser1119Arg
ENST00000346169.6:c.3354T>G (EIF4G1)	ENSP00000316879.4:p.Ser1118Arg
ENST00000350481.9:c.2862T>G (EIF4G1)	ENSP00000317600.8:p.Ser954Arg
ENST00000352767.7:c.3375T>G (EIF4G1)	ENSP00000338020.4:p.Ser1125Arg
ENST00000382330.7:c.3375T>G (EIF4G1)	ENSP00000371767.3:p.Ser1125Arg
ENST00000392537.6:c.3093T>G (EIF4G1)	ENSP00000376320.2:p.Ser1031Arg
ENST00000411531.5:c.3237T>G (EIF4G1)	ENSP00000395974.1:p.Ser1079Arg
ENST00000414031.5:c.3234T>G (EIF4G1)	ENSP00000391935.1:p.Ser1078Arg
ENST00000424196.5:c.3375T>G (EIF4G1)	ENSP00000416255.1:p.Ser1125Arg
ENST00000427845.5:c.3096T>G (EIF4G1)	ENSP00000407682.1:p.Ser1032Arg
ENST00000434061.6:c.2769T>G (EIF4G1)	ENSP00000411826.2:p.Ser923Arg
ENST00000435046.6:c.2766T>G (EIF4G1)	ENSP00000404754.2:p.Ser922Arg
ENST00000441154.5:c.2865T>G (EIF4G1)	ENSP00000399858.1:p.Ser955Arg
ENST00000442406.5:c.*2793T>G (EIF4G1)	ENSP00000400351.1:n.*2793T>G
ENST00000444495.1:c.2106+182202T>G (EIF2B5)	ENSP00000409142.1:n.2106+182202T>G
ENST00000448284.1:c.515T>G (EIF4G1)
NM_001194946.1:c.3375T>G (EIF4G1)	NP_001181875.1:p.Ser1125Arg
NM_001194947.1:c.3375T>G (EIF4G1)	NP_001181876.1:p.Ser1125Arg
NM_001291157.1:c.3234T>G (EIF4G1)	NP_001278086.1:p.Ser1078Arg
NM_004953.4:c.2769T>G (EIF4G1)	NP_004944.3:p.Ser923Arg
NM_182917.4:c.3357T>G (EIF4G1)	NP_886553.3:p.Ser1119Arg
NM_198241.2:c.3354T>G (EIF4G1)	NP_937884.1:p.Ser1118Arg
NM_198242.2:c.2862T>G (EIF4G1)	NP_937885.1:p.Ser954Arg
NM_198244.2:c.3093T>G (EIF4G1)	NP_937887.1:p.Ser1031Arg
NM_001194946.2:c.3375T>G (EIF4G1)	NP_001181875.2:p.Ser1125Arg
NM_001291157.2:c.3234T>G (EIF4G1)	NP_001278086.2:p.Ser1078Arg
NM_004953.5:c.2769T>G (EIF4G1)	NP_004944.3:p.Ser923Arg
NM_198241.3:c.3354T>G (EIF4G1) MANE Select	NP_937884.2:p.Ser1118Arg
NM_198242.3:c.2862T>G (EIF4G1)	NP_937885.1:p.Ser954Arg
NM_198244.3:c.3093T>G (EIF4G1)	NP_937887.2:p.Ser1031Arg
NM_001194947.2:c.3375T>G (EIF4G1)	NP_001181876.2:p.Ser1125Arg