Canonical Allele Identifier: CA355414043

Gene: EIF4G1 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184045041G>C (hg19) ; chr3:g.184327253G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327253G>C , CM000665.2:g.184327253G>C	GRCh38
NC_000003.11:g.184045041G>C , CM000665.1:g.184045041G>C	GRCh37
NC_000003.10:g.185527735G>C	NCBI36
NG_016850.1:g.17686G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3466G>C (EIF4G1) MANE Select	ENSP00000316879.5:p.Asp1156His
ENST00000435046.7:c.3400G>C (EIF4G1)	ENSP00000404754.3:p.Asp1134His
ENST00000676453.1:c.2813G>C (EIF4G1)	ENSP00000501695.1:n.2813G>C
ENST00000319274.10:c.2872G>C (EIF4G1)	ENSP00000323737.7:p.Asp958His
ENST00000342981.8:c.3469G>C (EIF4G1)	ENSP00000343450.4:p.Asp1157His
ENST00000346169.6:c.3466G>C (EIF4G1)	ENSP00000316879.4:p.Asp1156His
ENST00000350481.9:c.2974G>C (EIF4G1)	ENSP00000317600.8:p.Asp992His
ENST00000352767.7:c.3487G>C (EIF4G1)	ENSP00000338020.4:p.Asp1163His
ENST00000382330.7:c.3487G>C (EIF4G1)	ENSP00000371767.3:p.Asp1163His
ENST00000392537.6:c.3205G>C (EIF4G1)	ENSP00000376320.2:p.Asp1069His
ENST00000411531.5:c.3349G>C (EIF4G1)	ENSP00000395974.1:p.Asp1117His
ENST00000414031.5:c.3346G>C (EIF4G1)	ENSP00000391935.1:p.Asp1116His
ENST00000424196.5:c.3487G>C (EIF4G1)	ENSP00000416255.1:p.Asp1163His
ENST00000427845.5:c.3208G>C (EIF4G1)	ENSP00000407682.1:p.Asp1070His
ENST00000434061.6:c.2881G>C (EIF4G1)	ENSP00000411826.2:p.Asp961His
ENST00000435046.6:c.2878G>C (EIF4G1)	ENSP00000404754.2:p.Asp960His
ENST00000441154.5:c.2977G>C (EIF4G1)	ENSP00000399858.1:p.Asp993His
ENST00000442406.5:c.*2905G>C (EIF4G1)	ENSP00000400351.1:n.*2905G>C
ENST00000444495.1:c.2106+182546G>C (EIF2B5)	ENSP00000409142.1:n.2106+182546G>C
ENST00000448284.1:c.627G>C (EIF4G1)
NM_001194946.1:c.3487G>C (EIF4G1)	NP_001181875.1:p.Asp1163His
NM_001194947.1:c.3487G>C (EIF4G1)	NP_001181876.1:p.Asp1163His
NM_001291157.1:c.3346G>C (EIF4G1)	NP_001278086.1:p.Asp1116His
NM_004953.4:c.2881G>C (EIF4G1)	NP_004944.3:p.Asp961His
NM_182917.4:c.3469G>C (EIF4G1)	NP_886553.3:p.Asp1157His
NM_198241.2:c.3466G>C (EIF4G1)	NP_937884.1:p.Asp1156His
NM_198242.2:c.2974G>C (EIF4G1)	NP_937885.1:p.Asp992His
NM_198244.2:c.3205G>C (EIF4G1)	NP_937887.1:p.Asp1069His
NM_001194946.2:c.3487G>C (EIF4G1)	NP_001181875.2:p.Asp1163His
NM_001291157.2:c.3346G>C (EIF4G1)	NP_001278086.2:p.Asp1116His
NM_004953.5:c.2881G>C (EIF4G1)	NP_004944.3:p.Asp961His
NM_198241.3:c.3466G>C (EIF4G1) MANE Select	NP_937884.2:p.Asp1156His
NM_198242.3:c.2974G>C (EIF4G1)	NP_937885.1:p.Asp992His
NM_198244.3:c.3205G>C (EIF4G1)	NP_937887.2:p.Asp1069His
NM_001194947.2:c.3487G>C (EIF4G1)	NP_001181876.2:p.Asp1163His