Canonical Allele Identifier: CA2732900

Gene: EIF4G1 EIF2B5

Linked Data

• ClinVar Variation Id: 1209885
• ClinVar RCV Id: RCV001579377 ; RCV001685545 ; RCV003980722
• dbSNP Id: rs2230570
• ExAC: 3:184045410 T / C
• gnomAD v2: 3-184045410-T-C
• gnomAD v3: 3-184327622-T-C
• gnomAD v4: 3-184327622-T-C
• MyVariant Identifiers: chr3:g.184045410T>C (hg19) ; chr3:g.184327622T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327622T>C , CM000665.2:g.184327622T>C	GRCh38
NC_000003.11:g.184045410T>C , CM000665.1:g.184045410T>C	GRCh37
NC_000003.10:g.185528104T>C	NCBI36
NG_016850.1:g.18055T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3698T>C (EIF4G1) MANE Select	ENSP00000316879.5:p.Leu1233Pro
ENST00000435046.7:c.3632T>C (EIF4G1)	ENSP00000404754.3:p.Leu1211Pro
ENST00000676453.1:c.3045T>C (EIF4G1)	ENSP00000501695.1:n.3045T>C
ENST00000319274.10:c.3101T>C (EIF4G1)	ENSP00000323737.7:p.Leu1034Pro
ENST00000342981.8:c.3701T>C (EIF4G1)	ENSP00000343450.4:p.Leu1234Pro
ENST00000346169.6:c.3698T>C (EIF4G1)	ENSP00000316879.4:p.Leu1233Pro
ENST00000350481.9:c.3206T>C (EIF4G1)	ENSP00000317600.8:p.Leu1069Pro
ENST00000352767.7:c.3719T>C (EIF4G1)	ENSP00000338020.4:p.Leu1240Pro
ENST00000382330.7:c.3719T>C (EIF4G1)	ENSP00000371767.3:p.Leu1240Pro
ENST00000392537.6:c.3437T>C (EIF4G1)	ENSP00000376320.2:p.Leu1146Pro
ENST00000411531.5:c.3581T>C (EIF4G1)	ENSP00000395974.1:p.Leu1194Pro
ENST00000414031.5:c.3578T>C (EIF4G1)	ENSP00000391935.1:p.Leu1193Pro
ENST00000424196.5:c.3719T>C (EIF4G1)	ENSP00000416255.1:p.Leu1240Pro
ENST00000427845.5:c.3440T>C (EIF4G1)	ENSP00000407682.1:p.Leu1147Pro
ENST00000434061.6:c.3113T>C (EIF4G1)	ENSP00000411826.2:p.Leu1038Pro
ENST00000435046.6:c.3110T>C (EIF4G1)	ENSP00000404754.2:p.Leu1037Pro
ENST00000441154.5:c.3209T>C (EIF4G1)	ENSP00000399858.1:p.Leu1070Pro
ENST00000442406.5:c.*3137T>C (EIF4G1)	ENSP00000400351.1:n.*3137T>C
ENST00000444495.1:c.2106+182915T>C (EIF2B5)	ENSP00000409142.1:n.2106+182915T>C
ENST00000482303.1:n.200T>C (EIF4G1)
NM_001194946.1:c.3719T>C (EIF4G1)	NP_001181875.1:p.Leu1240Pro
NM_001194947.1:c.3719T>C (EIF4G1)	NP_001181876.1:p.Leu1240Pro
NM_001291157.1:c.3578T>C (EIF4G1)	NP_001278086.1:p.Leu1193Pro
NM_004953.4:c.3113T>C (EIF4G1)	NP_004944.3:p.Leu1038Pro
NM_182917.4:c.3701T>C (EIF4G1)	NP_886553.3:p.Leu1234Pro
NM_198241.2:c.3698T>C (EIF4G1)	NP_937884.1:p.Leu1233Pro
NM_198242.2:c.3206T>C (EIF4G1)	NP_937885.1:p.Leu1069Pro
NM_198244.2:c.3437T>C (EIF4G1)	NP_937887.1:p.Leu1146Pro
NM_001194946.2:c.3719T>C (EIF4G1)	NP_001181875.2:p.Leu1240Pro
NM_001291157.2:c.3578T>C (EIF4G1)	NP_001278086.2:p.Leu1193Pro
NM_004953.5:c.3113T>C (EIF4G1)	NP_004944.3:p.Leu1038Pro
NM_198241.3:c.3698T>C (EIF4G1) MANE Select	NP_937884.2:p.Leu1233Pro
NM_198242.3:c.3206T>C (EIF4G1)	NP_937885.1:p.Leu1069Pro
NM_198244.3:c.3437T>C (EIF4G1)	NP_937887.2:p.Leu1146Pro
NM_001194947.2:c.3719T>C (EIF4G1)	NP_001181876.2:p.Leu1240Pro