Canonical Allele Identifier: CA2732855

Gene: EIF4G1 EIF2B5

Linked Data

• dbSNP Id: rs760746597
• ExAC: 3:184045186 T / C
• gnomAD v2: 3-184045186-T-C
• gnomAD v3: 3-184327398-T-C
• gnomAD v4: 3-184327398-T-C
• MyVariant Identifiers: chr3:g.184045186T>C (hg19) ; chr3:g.184327398T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327398T>C , CM000665.2:g.184327398T>C	GRCh38
NC_000003.11:g.184045186T>C , CM000665.1:g.184045186T>C	GRCh37
NC_000003.10:g.185527880T>C	NCBI36
NG_016850.1:g.17831T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000346169.7:c.3611T>C (EIF4G1) MANE Select	ENSP00000316879.5:p.Leu1204Pro
ENST00000435046.7:c.3545T>C (EIF4G1)	ENSP00000404754.3:p.Leu1182Pro
ENST00000676453.1:c.2958T>C (EIF4G1)	ENSP00000501695.1:n.2958T>C
ENST00000319274.10:c.3014T>C (EIF4G1)	ENSP00000323737.7:p.Leu1005Pro
ENST00000342981.8:c.3614T>C (EIF4G1)	ENSP00000343450.4:p.Leu1205Pro
ENST00000346169.6:c.3611T>C (EIF4G1)	ENSP00000316879.4:p.Leu1204Pro
ENST00000350481.9:c.3119T>C (EIF4G1)	ENSP00000317600.8:p.Leu1040Pro
ENST00000352767.7:c.3632T>C (EIF4G1)	ENSP00000338020.4:p.Leu1211Pro
ENST00000382330.7:c.3632T>C (EIF4G1)	ENSP00000371767.3:p.Leu1211Pro
ENST00000392537.6:c.3350T>C (EIF4G1)	ENSP00000376320.2:p.Leu1117Pro
ENST00000411531.5:c.3494T>C (EIF4G1)	ENSP00000395974.1:p.Leu1165Pro
ENST00000414031.5:c.3491T>C (EIF4G1)	ENSP00000391935.1:p.Leu1164Pro
ENST00000424196.5:c.3632T>C (EIF4G1)	ENSP00000416255.1:p.Leu1211Pro
ENST00000427845.5:c.3353T>C (EIF4G1)	ENSP00000407682.1:p.Leu1118Pro
ENST00000434061.6:c.3026T>C (EIF4G1)	ENSP00000411826.2:p.Leu1009Pro
ENST00000435046.6:c.3023T>C (EIF4G1)	ENSP00000404754.2:p.Leu1008Pro
ENST00000441154.5:c.3122T>C (EIF4G1)	ENSP00000399858.1:p.Leu1041Pro
ENST00000442406.5:c.*3050T>C (EIF4G1)	ENSP00000400351.1:n.*3050T>C
ENST00000444495.1:c.2106+182691T>C (EIF2B5)	ENSP00000409142.1:n.2106+182691T>C
ENST00000482303.1:n.113T>C (EIF4G1)
NM_001194946.1:c.3632T>C (EIF4G1)	NP_001181875.1:p.Leu1211Pro
NM_001194947.1:c.3632T>C (EIF4G1)	NP_001181876.1:p.Leu1211Pro
NM_001291157.1:c.3491T>C (EIF4G1)	NP_001278086.1:p.Leu1164Pro
NM_004953.4:c.3026T>C (EIF4G1)	NP_004944.3:p.Leu1009Pro
NM_182917.4:c.3614T>C (EIF4G1)	NP_886553.3:p.Leu1205Pro
NM_198241.2:c.3611T>C (EIF4G1)	NP_937884.1:p.Leu1204Pro
NM_198242.2:c.3119T>C (EIF4G1)	NP_937885.1:p.Leu1040Pro
NM_198244.2:c.3350T>C (EIF4G1)	NP_937887.1:p.Leu1117Pro
NM_001194946.2:c.3632T>C (EIF4G1)	NP_001181875.2:p.Leu1211Pro
NM_001291157.2:c.3491T>C (EIF4G1)	NP_001278086.2:p.Leu1164Pro
NM_004953.5:c.3026T>C (EIF4G1)	NP_004944.3:p.Leu1009Pro
NM_198241.3:c.3611T>C (EIF4G1) MANE Select	NP_937884.2:p.Leu1204Pro
NM_198242.3:c.3119T>C (EIF4G1)	NP_937885.1:p.Leu1040Pro
NM_198244.3:c.3350T>C (EIF4G1)	NP_937887.2:p.Leu1117Pro
NM_001194947.2:c.3632T>C (EIF4G1)	NP_001181876.2:p.Leu1211Pro