Canonical Allele Identifier: CA355414550

Gene: EIF4G1 EIF2B5

Linked Data

• ClinVar Variation Id: 3064697
• ClinVar RCV Id: RCV003989182
• MyVariant Identifiers: chr3:g.184045092C>G (hg19) ; chr3:g.184327304C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327304C>G , CM000665.2:g.184327304C>G	GRCh38
NC_000003.11:g.184045092C>G , CM000665.1:g.184045092C>G	GRCh37
NC_000003.10:g.185527786C>G	NCBI36
NG_016850.1:g.17737C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3517C>G (EIF4G1) MANE Select	ENSP00000316879.5:p.Arg1173Gly
ENST00000435046.7:c.3451C>G (EIF4G1)	ENSP00000404754.3:p.Arg1151Gly
ENST00000676453.1:c.2864C>G (EIF4G1)	ENSP00000501695.1:n.2864C>G
ENST00000319274.10:c.2922C>G (EIF4G1)	ENSP00000323737.7:p.Thr974=
ENST00000342981.8:c.3520C>G (EIF4G1)	ENSP00000343450.4:p.Arg1174Gly
ENST00000346169.6:c.3517C>G (EIF4G1)	ENSP00000316879.4:p.Arg1173Gly
ENST00000350481.9:c.3025C>G (EIF4G1)	ENSP00000317600.8:p.Arg1009Gly
ENST00000352767.7:c.3538C>G (EIF4G1)	ENSP00000338020.4:p.Arg1180Gly
ENST00000382330.7:c.3538C>G (EIF4G1)	ENSP00000371767.3:p.Arg1180Gly
ENST00000392537.6:c.3256C>G (EIF4G1)	ENSP00000376320.2:p.Arg1086Gly
ENST00000411531.5:c.3400C>G (EIF4G1)	ENSP00000395974.1:p.Arg1134Gly
ENST00000414031.5:c.3397C>G (EIF4G1)	ENSP00000391935.1:p.Arg1133Gly
ENST00000424196.5:c.3538C>G (EIF4G1)	ENSP00000416255.1:p.Arg1180Gly
ENST00000427845.5:c.3259C>G (EIF4G1)	ENSP00000407682.1:p.Arg1087Gly
ENST00000434061.6:c.2932C>G (EIF4G1)	ENSP00000411826.2:p.Arg978Gly
ENST00000435046.6:c.2929C>G (EIF4G1)	ENSP00000404754.2:p.Arg977Gly
ENST00000441154.5:c.3028C>G (EIF4G1)	ENSP00000399858.1:p.Arg1010Gly
ENST00000442406.5:c.*2956C>G (EIF4G1)	ENSP00000400351.1:n.*2956C>G
ENST00000444495.1:c.2106+182597C>G (EIF2B5)	ENSP00000409142.1:n.2106+182597C>G
ENST00000482303.1:n.19C>G (EIF4G1)
NM_001194946.1:c.3538C>G (EIF4G1)	NP_001181875.1:p.Arg1180Gly
NM_001194947.1:c.3538C>G (EIF4G1)	NP_001181876.1:p.Arg1180Gly
NM_001291157.1:c.3397C>G (EIF4G1)	NP_001278086.1:p.Arg1133Gly
NM_004953.4:c.2932C>G (EIF4G1)	NP_004944.3:p.Arg978Gly
NM_182917.4:c.3520C>G (EIF4G1)	NP_886553.3:p.Arg1174Gly
NM_198241.2:c.3517C>G (EIF4G1)	NP_937884.1:p.Arg1173Gly
NM_198242.2:c.3025C>G (EIF4G1)	NP_937885.1:p.Arg1009Gly
NM_198244.2:c.3256C>G (EIF4G1)	NP_937887.1:p.Arg1086Gly
NM_001194946.2:c.3538C>G (EIF4G1)	NP_001181875.2:p.Arg1180Gly
NM_001291157.2:c.3397C>G (EIF4G1)	NP_001278086.2:p.Arg1133Gly
NM_004953.5:c.2932C>G (EIF4G1)	NP_004944.3:p.Arg978Gly
NM_198241.3:c.3517C>G (EIF4G1) MANE Select	NP_937884.2:p.Arg1173Gly
NM_198242.3:c.3025C>G (EIF4G1)	NP_937885.1:p.Arg1009Gly
NM_198244.3:c.3256C>G (EIF4G1)	NP_937887.2:p.Arg1086Gly
NM_001194947.2:c.3538C>G (EIF4G1)	NP_001181876.2:p.Arg1180Gly