Canonical Allele Identifier: CA2732899

Gene: EIF4G1 EIF2B5

Linked Data

• dbSNP Id: rs780223766
• ExAC: 3:184045409 C / A
• gnomAD v2: 3-184045409-C-A
• gnomAD v4: 3-184327621-C-A
• MyVariant Identifiers: chr3:g.184045409C>A (hg19) ; chr3:g.184327621C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327621C>A , CM000665.2:g.184327621C>A	GRCh38
NC_000003.11:g.184045409C>A , CM000665.1:g.184045409C>A	GRCh37
NC_000003.10:g.185528103C>A	NCBI36
NG_016850.1:g.18054C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3697C>A (EIF4G1) MANE Select	ENSP00000316879.5:p.Leu1233Met
ENST00000435046.7:c.3631C>A (EIF4G1)	ENSP00000404754.3:p.Leu1211Met
ENST00000676453.1:c.3044C>A (EIF4G1)	ENSP00000501695.1:n.3044C>A
ENST00000319274.10:c.3100C>A (EIF4G1)	ENSP00000323737.7:p.Leu1034Met
ENST00000342981.8:c.3700C>A (EIF4G1)	ENSP00000343450.4:p.Leu1234Met
ENST00000346169.6:c.3697C>A (EIF4G1)	ENSP00000316879.4:p.Leu1233Met
ENST00000350481.9:c.3205C>A (EIF4G1)	ENSP00000317600.8:p.Leu1069Met
ENST00000352767.7:c.3718C>A (EIF4G1)	ENSP00000338020.4:p.Leu1240Met
ENST00000382330.7:c.3718C>A (EIF4G1)	ENSP00000371767.3:p.Leu1240Met
ENST00000392537.6:c.3436C>A (EIF4G1)	ENSP00000376320.2:p.Leu1146Met
ENST00000411531.5:c.3580C>A (EIF4G1)	ENSP00000395974.1:p.Leu1194Met
ENST00000414031.5:c.3577C>A (EIF4G1)	ENSP00000391935.1:p.Leu1193Met
ENST00000424196.5:c.3718C>A (EIF4G1)	ENSP00000416255.1:p.Leu1240Met
ENST00000427845.5:c.3439C>A (EIF4G1)	ENSP00000407682.1:p.Leu1147Met
ENST00000434061.6:c.3112C>A (EIF4G1)	ENSP00000411826.2:p.Leu1038Met
ENST00000435046.6:c.3109C>A (EIF4G1)	ENSP00000404754.2:p.Leu1037Met
ENST00000441154.5:c.3208C>A (EIF4G1)	ENSP00000399858.1:p.Leu1070Met
ENST00000442406.5:c.*3136C>A (EIF4G1)	ENSP00000400351.1:n.*3136C>A
ENST00000444495.1:c.2106+182914C>A (EIF2B5)	ENSP00000409142.1:n.2106+182914C>A
ENST00000482303.1:n.199C>A (EIF4G1)
NM_001194946.1:c.3718C>A (EIF4G1)	NP_001181875.1:p.Leu1240Met
NM_001194947.1:c.3718C>A (EIF4G1)	NP_001181876.1:p.Leu1240Met
NM_001291157.1:c.3577C>A (EIF4G1)	NP_001278086.1:p.Leu1193Met
NM_004953.4:c.3112C>A (EIF4G1)	NP_004944.3:p.Leu1038Met
NM_182917.4:c.3700C>A (EIF4G1)	NP_886553.3:p.Leu1234Met
NM_198241.2:c.3697C>A (EIF4G1)	NP_937884.1:p.Leu1233Met
NM_198242.2:c.3205C>A (EIF4G1)	NP_937885.1:p.Leu1069Met
NM_198244.2:c.3436C>A (EIF4G1)	NP_937887.1:p.Leu1146Met
NM_001194946.2:c.3718C>A (EIF4G1)	NP_001181875.2:p.Leu1240Met
NM_001291157.2:c.3577C>A (EIF4G1)	NP_001278086.2:p.Leu1193Met
NM_004953.5:c.3112C>A (EIF4G1)	NP_004944.3:p.Leu1038Met
NM_198241.3:c.3697C>A (EIF4G1) MANE Select	NP_937884.2:p.Leu1233Met
NM_198242.3:c.3205C>A (EIF4G1)	NP_937885.1:p.Leu1069Met
NM_198244.3:c.3436C>A (EIF4G1)	NP_937887.2:p.Leu1146Met
NM_001194947.2:c.3718C>A (EIF4G1)	NP_001181876.2:p.Leu1240Met