Canonical Allele Identifier: CA355390549

Gene: EIF4G1 EIF2B5

Linked Data

• dbSNP Id: rs1560214929
• gnomAD v2: 3-184039823-T-A
• gnomAD v4: 3-184322035-T-A
• MyVariant Identifiers: chr3:g.184039823T>A (hg19) ; chr3:g.184322035T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184322035T>A , CM000665.2:g.184322035T>A	GRCh38
NC_000003.11:g.184039823T>A , CM000665.1:g.184039823T>A	GRCh37
NC_000003.10:g.185522517T>A	NCBI36
NG_016850.1:g.12468T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.1451T>A (EIF4G1) MANE Select	ENSP00000316879.5:p.Leu484His
ENST00000435046.7:c.1385T>A (EIF4G1)	ENSP00000404754.3:p.Leu462His
ENST00000676453.1:c.821T>A (EIF4G1)	ENSP00000501695.1:p.Leu274His
ENST00000319274.10:c.863T>A (EIF4G1)	ENSP00000323737.7:p.Leu288His
ENST00000342981.8:c.1451T>A (EIF4G1)	ENSP00000343450.4:p.Leu484His
ENST00000346169.6:c.1451T>A (EIF4G1)	ENSP00000316879.4:p.Leu484His
ENST00000350481.9:c.959T>A (EIF4G1)	ENSP00000317600.8:p.Leu320His
ENST00000352767.7:c.1472T>A (EIF4G1)	ENSP00000338020.4:p.Leu491His
ENST00000382330.7:c.1472T>A (EIF4G1)	ENSP00000371767.3:p.Leu491His
ENST00000392537.6:c.1190T>A (EIF4G1)	ENSP00000376320.2:p.Leu397His
ENST00000411531.5:c.1331T>A (EIF4G1)	ENSP00000395974.1:p.Leu444His
ENST00000413967.5:c.*958T>A (EIF4G1)	ENSP00000390755.1:n.*958T>A
ENST00000414031.5:c.1331T>A (EIF4G1)	ENSP00000391935.1:p.Leu444His
ENST00000421110.5:c.1472T>A (EIF4G1)	ENSP00000413159.1:p.Leu491His
ENST00000424196.5:c.1472T>A (EIF4G1)	ENSP00000416255.1:p.Leu491His
ENST00000426123.5:c.1274T>A (EIF4G1)	ENSP00000403269.1:p.Leu425His
ENST00000427845.5:c.1190T>A (EIF4G1)	ENSP00000407682.1:p.Leu397His
ENST00000434061.6:c.863T>A (EIF4G1)	ENSP00000411826.2:p.Leu288His
ENST00000435046.6:c.863T>A (EIF4G1)	ENSP00000404754.2:p.Leu288His
ENST00000441154.5:c.959T>A (EIF4G1)	ENSP00000399858.1:p.Leu320His
ENST00000442406.5:c.*890T>A (EIF4G1)	ENSP00000400351.1:n.*890T>A
ENST00000444495.1:c.2106+177328T>A (EIF2B5)	ENSP00000409142.1:n.2106+177328T>A
ENST00000444861.5:c.959T>A (EIF4G1)	ENSP00000398145.1:p.Leu320His
ENST00000450424.5:c.1451T>A (EIF4G1)	ENSP00000391412.1:p.Leu484His
NM_001194946.1:c.1472T>A (EIF4G1)	NP_001181875.1:p.Leu491His
NM_001194947.1:c.1472T>A (EIF4G1)	NP_001181876.1:p.Leu491His
NM_001291157.1:c.1331T>A (EIF4G1)	NP_001278086.1:p.Leu444His
NM_004953.4:c.863T>A (EIF4G1)	NP_004944.3:p.Leu288His
NM_182917.4:c.1451T>A (EIF4G1)	NP_886553.3:p.Leu484His
NM_198241.2:c.1451T>A (EIF4G1)	NP_937884.1:p.Leu484His
NM_198242.2:c.959T>A (EIF4G1)	NP_937885.1:p.Leu320His
NM_198244.2:c.1190T>A (EIF4G1)	NP_937887.1:p.Leu397His
NM_001194946.2:c.1472T>A (EIF4G1)	NP_001181875.2:p.Leu491His
NM_001291157.2:c.1331T>A (EIF4G1)	NP_001278086.2:p.Leu444His
NM_004953.5:c.863T>A (EIF4G1)	NP_004944.3:p.Leu288His
NM_198241.3:c.1451T>A (EIF4G1) MANE Select	NP_937884.2:p.Leu484His
NM_198242.3:c.959T>A (EIF4G1)	NP_937885.1:p.Leu320His
NM_198244.3:c.1190T>A (EIF4G1)	NP_937887.2:p.Leu397His
NM_001194947.2:c.1472T>A (EIF4G1)	NP_001181876.2:p.Leu491His