Canonical Allele Identifier: CA88867878

Gene: EIF4G1 EIF2B5

Linked Data

• dbSNP Id: rs35629949
• gnomAD v2: 3-184045397-C-A
• gnomAD v4: 3-184327609-C-A
• MyVariant Identifiers: chr3:g.184045397C>A (hg19) ; chr3:g.184327609C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327609C>A , CM000665.2:g.184327609C>A	GRCh38
NC_000003.11:g.184045397C>A , CM000665.1:g.184045397C>A	GRCh37
NC_000003.10:g.185528091C>A	NCBI36
NG_016850.1:g.18042C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3685C>A (EIF4G1) MANE Select	ENSP00000316879.5:p.Pro1229Thr
ENST00000435046.7:c.3619C>A (EIF4G1)	ENSP00000404754.3:p.Pro1207Thr
ENST00000676453.1:c.3032C>A (EIF4G1)	ENSP00000501695.1:n.3032C>A
ENST00000319274.10:c.3088C>A (EIF4G1)	ENSP00000323737.7:p.Pro1030Thr
ENST00000342981.8:c.3688C>A (EIF4G1)	ENSP00000343450.4:p.Pro1230Thr
ENST00000346169.6:c.3685C>A (EIF4G1)	ENSP00000316879.4:p.Pro1229Thr
ENST00000350481.9:c.3193C>A (EIF4G1)	ENSP00000317600.8:p.Pro1065Thr
ENST00000352767.7:c.3706C>A (EIF4G1)	ENSP00000338020.4:p.Pro1236Thr
ENST00000382330.7:c.3706C>A (EIF4G1)	ENSP00000371767.3:p.Pro1236Thr
ENST00000392537.6:c.3424C>A (EIF4G1)	ENSP00000376320.2:p.Pro1142Thr
ENST00000411531.5:c.3568C>A (EIF4G1)	ENSP00000395974.1:p.Pro1190Thr
ENST00000414031.5:c.3565C>A (EIF4G1)	ENSP00000391935.1:p.Pro1189Thr
ENST00000424196.5:c.3706C>A (EIF4G1)	ENSP00000416255.1:p.Pro1236Thr
ENST00000427845.5:c.3427C>A (EIF4G1)	ENSP00000407682.1:p.Pro1143Thr
ENST00000434061.6:c.3100C>A (EIF4G1)	ENSP00000411826.2:p.Pro1034Thr
ENST00000435046.6:c.3097C>A (EIF4G1)	ENSP00000404754.2:p.Pro1033Thr
ENST00000441154.5:c.3196C>A (EIF4G1)	ENSP00000399858.1:p.Pro1066Thr
ENST00000442406.5:c.*3124C>A (EIF4G1)	ENSP00000400351.1:n.*3124C>A
ENST00000444495.1:c.2106+182902C>A (EIF2B5)	ENSP00000409142.1:n.2106+182902C>A
ENST00000482303.1:n.187C>A (EIF4G1)
NM_001194946.1:c.3706C>A (EIF4G1)	NP_001181875.1:p.Pro1236Thr
NM_001194947.1:c.3706C>A (EIF4G1)	NP_001181876.1:p.Pro1236Thr
NM_001291157.1:c.3565C>A (EIF4G1)	NP_001278086.1:p.Pro1189Thr
NM_004953.4:c.3100C>A (EIF4G1)	NP_004944.3:p.Pro1034Thr
NM_182917.4:c.3688C>A (EIF4G1)	NP_886553.3:p.Pro1230Thr
NM_198241.2:c.3685C>A (EIF4G1)	NP_937884.1:p.Pro1229Thr
NM_198242.2:c.3193C>A (EIF4G1)	NP_937885.1:p.Pro1065Thr
NM_198244.2:c.3424C>A (EIF4G1)	NP_937887.1:p.Pro1142Thr
NM_001194946.2:c.3706C>A (EIF4G1)	NP_001181875.2:p.Pro1236Thr
NM_001291157.2:c.3565C>A (EIF4G1)	NP_001278086.2:p.Pro1189Thr
NM_004953.5:c.3100C>A (EIF4G1)	NP_004944.3:p.Pro1034Thr
NM_198241.3:c.3685C>A (EIF4G1) MANE Select	NP_937884.2:p.Pro1229Thr
NM_198242.3:c.3193C>A (EIF4G1)	NP_937885.1:p.Pro1065Thr
NM_198244.3:c.3424C>A (EIF4G1)	NP_937887.2:p.Pro1142Thr
NM_001194947.2:c.3706C>A (EIF4G1)	NP_001181876.2:p.Pro1236Thr