Canonical Allele Identifier: CA2668840168

Gene: EIF4G1 EIF2B5

Linked Data

• gnomAD v4: 3-184327186-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327186T>C , CM000665.2:g.184327186T>C	GRCh38
NC_000003.11:g.184044974T>C , CM000665.1:g.184044974T>C	GRCh37
NC_000003.10:g.185527668T>C	NCBI36
NG_016850.1:g.17619T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3429-30T>C (EIF4G1) MANE Select	ENSP00000316879.5:n.3429-30T>C
ENST00000435046.7:c.3363-30T>C (EIF4G1)	ENSP00000404754.3:n.3363-30T>C
ENST00000676453.1:c.2776-30T>C (EIF4G1)	ENSP00000501695.1:n.2776-30T>C
ENST00000319274.10:c.2835-30T>C (EIF4G1)	ENSP00000323737.7:n.2835-30T>C
ENST00000342981.8:c.3432-30T>C (EIF4G1)	ENSP00000343450.4:n.3432-30T>C
ENST00000346169.6:c.3429-30T>C (EIF4G1)	ENSP00000316879.4:n.3429-30T>C
ENST00000350481.9:c.2937-30T>C (EIF4G1)	ENSP00000317600.8:n.2937-30T>C
ENST00000352767.7:c.3450-30T>C (EIF4G1)	ENSP00000338020.4:n.3450-30T>C
ENST00000382330.7:c.3450-30T>C (EIF4G1)	ENSP00000371767.3:n.3450-30T>C
ENST00000392537.6:c.3168-30T>C (EIF4G1)	ENSP00000376320.2:n.3168-30T>C
ENST00000411531.5:c.3312-30T>C (EIF4G1)	ENSP00000395974.1:n.3312-30T>C
ENST00000414031.5:c.3309-30T>C (EIF4G1)	ENSP00000391935.1:n.3309-30T>C
ENST00000424196.5:c.3450-30T>C (EIF4G1)	ENSP00000416255.1:n.3450-30T>C
ENST00000427845.5:c.3171-30T>C (EIF4G1)	ENSP00000407682.1:n.3171-30T>C
ENST00000434061.6:c.2844-30T>C (EIF4G1)	ENSP00000411826.2:n.2844-30T>C
ENST00000435046.6:c.2841-30T>C (EIF4G1)	ENSP00000404754.2:n.2841-30T>C
ENST00000441154.5:c.2940-30T>C (EIF4G1)	ENSP00000399858.1:n.2940-30T>C
ENST00000442406.5:c.*2868-30T>C (EIF4G1)	ENSP00000400351.1:n.*2868-30T>C
ENST00000444495.1:c.2106+182479T>C (EIF2B5)	ENSP00000409142.1:n.2106+182479T>C
ENST00000448284.1:c.590-30T>C (EIF4G1)
NM_001194946.1:c.3450-30T>C (EIF4G1)	NP_001181875.1:n.3450-30T>C
NM_001194947.1:c.3450-30T>C (EIF4G1)	NP_001181876.1:n.3450-30T>C
NM_001291157.1:c.3309-30T>C (EIF4G1)	NP_001278086.1:n.3309-30T>C
NM_004953.4:c.2844-30T>C (EIF4G1)	NP_004944.3:n.2844-30T>C
NM_182917.4:c.3432-30T>C (EIF4G1)	NP_886553.3:n.3432-30T>C
NM_198241.2:c.3429-30T>C (EIF4G1)	NP_937884.1:n.3429-30T>C
NM_198242.2:c.2937-30T>C (EIF4G1)	NP_937885.1:n.2937-30T>C
NM_198244.2:c.3168-30T>C (EIF4G1)	NP_937887.1:n.3168-30T>C
NM_001194946.2:c.3450-30T>C (EIF4G1)	NP_001181875.2:n.3450-30T>C
NM_001291157.2:c.3309-30T>C (EIF4G1)	NP_001278086.2:n.3309-30T>C
NM_004953.5:c.2844-30T>C (EIF4G1)	NP_004944.3:n.2844-30T>C
NM_198241.3:c.3429-30T>C (EIF4G1) MANE Select	NP_937884.2:n.3429-30T>C
NM_198242.3:c.2937-30T>C (EIF4G1)	NP_937885.1:n.2937-30T>C
NM_198244.3:c.3168-30T>C (EIF4G1)	NP_937887.2:n.3168-30T>C
NM_001194947.2:c.3450-30T>C (EIF4G1)	NP_001181876.2:n.3450-30T>C