Canonical Allele Identifier: CA355414868

Gene: EIF4G1 EIF2B5

Linked Data

• gnomAD v4: 3-184327332-C-T
• MyVariant Identifiers: chr3:g.184045120C>T (hg19) ; chr3:g.184327332C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327332C>T , CM000665.2:g.184327332C>T	GRCh38
NC_000003.11:g.184045120C>T , CM000665.1:g.184045120C>T	GRCh37
NC_000003.10:g.185527814C>T	NCBI36
NG_016850.1:g.17765C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3545C>T (EIF4G1) MANE Select	ENSP00000316879.5:p.Thr1182Ile
ENST00000435046.7:c.3479C>T (EIF4G1)	ENSP00000404754.3:p.Thr1160Ile
ENST00000676453.1:c.2892C>T (EIF4G1)	ENSP00000501695.1:n.2892C>T
ENST00000319274.10:c.2948C>T (EIF4G1)	ENSP00000323737.7:p.Thr983Ile
ENST00000342981.8:c.3548C>T (EIF4G1)	ENSP00000343450.4:p.Thr1183Ile
ENST00000346169.6:c.3545C>T (EIF4G1)	ENSP00000316879.4:p.Thr1182Ile
ENST00000350481.9:c.3053C>T (EIF4G1)	ENSP00000317600.8:p.Thr1018Ile
ENST00000352767.7:c.3566C>T (EIF4G1)	ENSP00000338020.4:p.Thr1189Ile
ENST00000382330.7:c.3566C>T (EIF4G1)	ENSP00000371767.3:p.Thr1189Ile
ENST00000392537.6:c.3284C>T (EIF4G1)	ENSP00000376320.2:p.Thr1095Ile
ENST00000411531.5:c.3428C>T (EIF4G1)	ENSP00000395974.1:p.Thr1143Ile
ENST00000414031.5:c.3425C>T (EIF4G1)	ENSP00000391935.1:p.Thr1142Ile
ENST00000424196.5:c.3566C>T (EIF4G1)	ENSP00000416255.1:p.Thr1189Ile
ENST00000427845.5:c.3287C>T (EIF4G1)	ENSP00000407682.1:p.Thr1096Ile
ENST00000434061.6:c.2960C>T (EIF4G1)	ENSP00000411826.2:p.Thr987Ile
ENST00000435046.6:c.2957C>T (EIF4G1)	ENSP00000404754.2:p.Thr986Ile
ENST00000441154.5:c.3056C>T (EIF4G1)	ENSP00000399858.1:p.Thr1019Ile
ENST00000442406.5:c.*2984C>T (EIF4G1)	ENSP00000400351.1:n.*2984C>T
ENST00000444495.1:c.2106+182625C>T (EIF2B5)	ENSP00000409142.1:n.2106+182625C>T
ENST00000482303.1:n.47C>T (EIF4G1)
NM_001194946.1:c.3566C>T (EIF4G1)	NP_001181875.1:p.Thr1189Ile
NM_001194947.1:c.3566C>T (EIF4G1)	NP_001181876.1:p.Thr1189Ile
NM_001291157.1:c.3425C>T (EIF4G1)	NP_001278086.1:p.Thr1142Ile
NM_004953.4:c.2960C>T (EIF4G1)	NP_004944.3:p.Thr987Ile
NM_182917.4:c.3548C>T (EIF4G1)	NP_886553.3:p.Thr1183Ile
NM_198241.2:c.3545C>T (EIF4G1)	NP_937884.1:p.Thr1182Ile
NM_198242.2:c.3053C>T (EIF4G1)	NP_937885.1:p.Thr1018Ile
NM_198244.2:c.3284C>T (EIF4G1)	NP_937887.1:p.Thr1095Ile
NM_001194946.2:c.3566C>T (EIF4G1)	NP_001181875.2:p.Thr1189Ile
NM_001291157.2:c.3425C>T (EIF4G1)	NP_001278086.2:p.Thr1142Ile
NM_004953.5:c.2960C>T (EIF4G1)	NP_004944.3:p.Thr987Ile
NM_198241.3:c.3545C>T (EIF4G1) MANE Select	NP_937884.2:p.Thr1182Ile
NM_198242.3:c.3053C>T (EIF4G1)	NP_937885.1:p.Thr1018Ile
NM_198244.3:c.3284C>T (EIF4G1)	NP_937887.2:p.Thr1095Ile
NM_001194947.2:c.3566C>T (EIF4G1)	NP_001181876.2:p.Thr1189Ile