Canonical Allele Identifier: CA2732895

Gene: EIF4G1 EIF2B5

Linked Data

• dbSNP Id: rs777574700
• ExAC: 3:184045401 T / C
• gnomAD v2: 3-184045401-T-C
• gnomAD v3: 3-184327613-T-C
• gnomAD v4: 3-184327613-T-C
• MyVariant Identifiers: chr3:g.184045401T>C (hg19) ; chr3:g.184327613T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327613T>C , CM000665.2:g.184327613T>C	GRCh38
NC_000003.11:g.184045401T>C , CM000665.1:g.184045401T>C	GRCh37
NC_000003.10:g.185528095T>C	NCBI36
NG_016850.1:g.18046T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3689T>C (EIF4G1) MANE Select	ENSP00000316879.5:p.Val1230Ala
ENST00000435046.7:c.3623T>C (EIF4G1)	ENSP00000404754.3:p.Val1208Ala
ENST00000676453.1:c.3036T>C (EIF4G1)	ENSP00000501695.1:n.3036T>C
ENST00000319274.10:c.3092T>C (EIF4G1)	ENSP00000323737.7:p.Val1031Ala
ENST00000342981.8:c.3692T>C (EIF4G1)	ENSP00000343450.4:p.Val1231Ala
ENST00000346169.6:c.3689T>C (EIF4G1)	ENSP00000316879.4:p.Val1230Ala
ENST00000350481.9:c.3197T>C (EIF4G1)	ENSP00000317600.8:p.Val1066Ala
ENST00000352767.7:c.3710T>C (EIF4G1)	ENSP00000338020.4:p.Val1237Ala
ENST00000382330.7:c.3710T>C (EIF4G1)	ENSP00000371767.3:p.Val1237Ala
ENST00000392537.6:c.3428T>C (EIF4G1)	ENSP00000376320.2:p.Val1143Ala
ENST00000411531.5:c.3572T>C (EIF4G1)	ENSP00000395974.1:p.Val1191Ala
ENST00000414031.5:c.3569T>C (EIF4G1)	ENSP00000391935.1:p.Val1190Ala
ENST00000424196.5:c.3710T>C (EIF4G1)	ENSP00000416255.1:p.Val1237Ala
ENST00000427845.5:c.3431T>C (EIF4G1)	ENSP00000407682.1:p.Val1144Ala
ENST00000434061.6:c.3104T>C (EIF4G1)	ENSP00000411826.2:p.Val1035Ala
ENST00000435046.6:c.3101T>C (EIF4G1)	ENSP00000404754.2:p.Val1034Ala
ENST00000441154.5:c.3200T>C (EIF4G1)	ENSP00000399858.1:p.Val1067Ala
ENST00000442406.5:c.*3128T>C (EIF4G1)	ENSP00000400351.1:n.*3128T>C
ENST00000444495.1:c.2106+182906T>C (EIF2B5)	ENSP00000409142.1:n.2106+182906T>C
ENST00000482303.1:n.191T>C (EIF4G1)
NM_001194946.1:c.3710T>C (EIF4G1)	NP_001181875.1:p.Val1237Ala
NM_001194947.1:c.3710T>C (EIF4G1)	NP_001181876.1:p.Val1237Ala
NM_001291157.1:c.3569T>C (EIF4G1)	NP_001278086.1:p.Val1190Ala
NM_004953.4:c.3104T>C (EIF4G1)	NP_004944.3:p.Val1035Ala
NM_182917.4:c.3692T>C (EIF4G1)	NP_886553.3:p.Val1231Ala
NM_198241.2:c.3689T>C (EIF4G1)	NP_937884.1:p.Val1230Ala
NM_198242.2:c.3197T>C (EIF4G1)	NP_937885.1:p.Val1066Ala
NM_198244.2:c.3428T>C (EIF4G1)	NP_937887.1:p.Val1143Ala
NM_001194946.2:c.3710T>C (EIF4G1)	NP_001181875.2:p.Val1237Ala
NM_001291157.2:c.3569T>C (EIF4G1)	NP_001278086.2:p.Val1190Ala
NM_004953.5:c.3104T>C (EIF4G1)	NP_004944.3:p.Val1035Ala
NM_198241.3:c.3689T>C (EIF4G1) MANE Select	NP_937884.2:p.Val1230Ala
NM_198242.3:c.3197T>C (EIF4G1)	NP_937885.1:p.Val1066Ala
NM_198244.3:c.3428T>C (EIF4G1)	NP_937887.2:p.Val1143Ala
NM_001194947.2:c.3710T>C (EIF4G1)	NP_001181876.2:p.Val1237Ala