Canonical Allele Identifier: CA355415034

Gene: EIF4G1 EIF2B5

Linked Data

• gnomAD v4: 3-184327361-G-A
• MyVariant Identifiers: chr3:g.184045149G>A (hg19) ; chr3:g.184327361G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327361G>A , CM000665.2:g.184327361G>A	GRCh38
NC_000003.11:g.184045149G>A , CM000665.1:g.184045149G>A	GRCh37
NC_000003.10:g.185527843G>A	NCBI36
NG_016850.1:g.17794G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3574G>A (EIF4G1) MANE Select	ENSP00000316879.5:p.Glu1192Lys
ENST00000435046.7:c.3508G>A (EIF4G1)	ENSP00000404754.3:p.Glu1170Lys
ENST00000676453.1:c.2921G>A (EIF4G1)	ENSP00000501695.1:n.2921G>A
ENST00000319274.10:c.2977G>A (EIF4G1)	ENSP00000323737.7:p.Glu993Lys
ENST00000342981.8:c.3577G>A (EIF4G1)	ENSP00000343450.4:p.Glu1193Lys
ENST00000346169.6:c.3574G>A (EIF4G1)	ENSP00000316879.4:p.Glu1192Lys
ENST00000350481.9:c.3082G>A (EIF4G1)	ENSP00000317600.8:p.Glu1028Lys
ENST00000352767.7:c.3595G>A (EIF4G1)	ENSP00000338020.4:p.Glu1199Lys
ENST00000382330.7:c.3595G>A (EIF4G1)	ENSP00000371767.3:p.Glu1199Lys
ENST00000392537.6:c.3313G>A (EIF4G1)	ENSP00000376320.2:p.Glu1105Lys
ENST00000411531.5:c.3457G>A (EIF4G1)	ENSP00000395974.1:p.Glu1153Lys
ENST00000414031.5:c.3454G>A (EIF4G1)	ENSP00000391935.1:p.Glu1152Lys
ENST00000424196.5:c.3595G>A (EIF4G1)	ENSP00000416255.1:p.Glu1199Lys
ENST00000427845.5:c.3316G>A (EIF4G1)	ENSP00000407682.1:p.Glu1106Lys
ENST00000434061.6:c.2989G>A (EIF4G1)	ENSP00000411826.2:p.Glu997Lys
ENST00000435046.6:c.2986G>A (EIF4G1)	ENSP00000404754.2:p.Glu996Lys
ENST00000441154.5:c.3085G>A (EIF4G1)	ENSP00000399858.1:p.Glu1029Lys
ENST00000442406.5:c.*3013G>A (EIF4G1)	ENSP00000400351.1:n.*3013G>A
ENST00000444495.1:c.2106+182654G>A (EIF2B5)	ENSP00000409142.1:n.2106+182654G>A
ENST00000482303.1:n.76G>A (EIF4G1)
NM_001194946.1:c.3595G>A (EIF4G1)	NP_001181875.1:p.Glu1199Lys
NM_001194947.1:c.3595G>A (EIF4G1)	NP_001181876.1:p.Glu1199Lys
NM_001291157.1:c.3454G>A (EIF4G1)	NP_001278086.1:p.Glu1152Lys
NM_004953.4:c.2989G>A (EIF4G1)	NP_004944.3:p.Glu997Lys
NM_182917.4:c.3577G>A (EIF4G1)	NP_886553.3:p.Glu1193Lys
NM_198241.2:c.3574G>A (EIF4G1)	NP_937884.1:p.Glu1192Lys
NM_198242.2:c.3082G>A (EIF4G1)	NP_937885.1:p.Glu1028Lys
NM_198244.2:c.3313G>A (EIF4G1)	NP_937887.1:p.Glu1105Lys
NM_001194946.2:c.3595G>A (EIF4G1)	NP_001181875.2:p.Glu1199Lys
NM_001291157.2:c.3454G>A (EIF4G1)	NP_001278086.2:p.Glu1152Lys
NM_004953.5:c.2989G>A (EIF4G1)	NP_004944.3:p.Glu997Lys
NM_198241.3:c.3574G>A (EIF4G1) MANE Select	NP_937884.2:p.Glu1192Lys
NM_198242.3:c.3082G>A (EIF4G1)	NP_937885.1:p.Glu1028Lys
NM_198244.3:c.3313G>A (EIF4G1)	NP_937887.2:p.Glu1105Lys
NM_001194947.2:c.3595G>A (EIF4G1)	NP_001181876.2:p.Glu1199Lys