Canonical Allele Identifier: CA2668841199

Gene: EIF4G1 EIF2B5

Linked Data

• gnomAD v4: 3-184327533-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327533T>C , CM000665.2:g.184327533T>C	GRCh38
NC_000003.11:g.184045321T>C , CM000665.1:g.184045321T>C	GRCh37
NC_000003.10:g.185528015T>C	NCBI36
NG_016850.1:g.17966T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3662-53T>C (EIF4G1) MANE Select	ENSP00000316879.5:n.3662-53T>C
ENST00000435046.7:c.3596-53T>C (EIF4G1)	ENSP00000404754.3:n.3596-53T>C
ENST00000676453.1:c.3009-53T>C (EIF4G1)	ENSP00000501695.1:n.3009-53T>C
ENST00000319274.10:c.3065-53T>C (EIF4G1)	ENSP00000323737.7:n.3065-53T>C
ENST00000342981.8:c.3665-53T>C (EIF4G1)	ENSP00000343450.4:n.3665-53T>C
ENST00000346169.6:c.3662-53T>C (EIF4G1)	ENSP00000316879.4:n.3662-53T>C
ENST00000350481.9:c.3170-53T>C (EIF4G1)	ENSP00000317600.8:n.3170-53T>C
ENST00000352767.7:c.3683-53T>C (EIF4G1)	ENSP00000338020.4:n.3683-53T>C
ENST00000382330.7:c.3683-53T>C (EIF4G1)	ENSP00000371767.3:n.3683-53T>C
ENST00000392537.6:c.3401-53T>C (EIF4G1)	ENSP00000376320.2:n.3401-53T>C
ENST00000411531.5:c.3545-53T>C (EIF4G1)	ENSP00000395974.1:n.3545-53T>C
ENST00000414031.5:c.3542-53T>C (EIF4G1)	ENSP00000391935.1:n.3542-53T>C
ENST00000424196.5:c.3683-53T>C (EIF4G1)	ENSP00000416255.1:n.3683-53T>C
ENST00000427845.5:c.3404-53T>C (EIF4G1)	ENSP00000407682.1:n.3404-53T>C
ENST00000434061.6:c.3077-53T>C (EIF4G1)	ENSP00000411826.2:n.3077-53T>C
ENST00000435046.6:c.3074-53T>C (EIF4G1)	ENSP00000404754.2:n.3074-53T>C
ENST00000441154.5:c.3173-53T>C (EIF4G1)	ENSP00000399858.1:n.3173-53T>C
ENST00000442406.5:c.*3101-53T>C (EIF4G1)	ENSP00000400351.1:n.*3101-53T>C
ENST00000444495.1:c.2106+182826T>C (EIF2B5)	ENSP00000409142.1:n.2106+182826T>C
ENST00000482303.1:n.164-53T>C (EIF4G1)
NM_001194946.1:c.3683-53T>C (EIF4G1)	NP_001181875.1:n.3683-53T>C
NM_001194947.1:c.3683-53T>C (EIF4G1)	NP_001181876.1:n.3683-53T>C
NM_001291157.1:c.3542-53T>C (EIF4G1)	NP_001278086.1:n.3542-53T>C
NM_004953.4:c.3077-53T>C (EIF4G1)	NP_004944.3:n.3077-53T>C
NM_182917.4:c.3665-53T>C (EIF4G1)	NP_886553.3:n.3665-53T>C
NM_198241.2:c.3662-53T>C (EIF4G1)	NP_937884.1:n.3662-53T>C
NM_198242.2:c.3170-53T>C (EIF4G1)	NP_937885.1:n.3170-53T>C
NM_198244.2:c.3401-53T>C (EIF4G1)	NP_937887.1:n.3401-53T>C
NM_001194946.2:c.3683-53T>C (EIF4G1)	NP_001181875.2:n.3683-53T>C
NM_001291157.2:c.3542-53T>C (EIF4G1)	NP_001278086.2:n.3542-53T>C
NM_004953.5:c.3077-53T>C (EIF4G1)	NP_004944.3:n.3077-53T>C
NM_198241.3:c.3662-53T>C (EIF4G1) MANE Select	NP_937884.2:n.3662-53T>C
NM_198242.3:c.3170-53T>C (EIF4G1)	NP_937885.1:n.3170-53T>C
NM_198244.3:c.3401-53T>C (EIF4G1)	NP_937887.2:n.3401-53T>C
NM_001194947.2:c.3683-53T>C (EIF4G1)	NP_001181876.2:n.3683-53T>C