Canonical Allele Identifier: CA9186775

Gene: EIF3G

Linked Data

• dbSNP Id: rs200086408
• ExAC: 19:10226124 A / C
• gnomAD v2: 19-10226124-A-C
• gnomAD v4: 19-10115448-A-C
• MyVariant Identifiers: chr19:g.10226124A>C (hg19) ; chr19:g.10226124_10226136delinsCGCAGGGGCTGGG (hg19) ; chr19:g.10115448A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10115448A>C , CM000681.2:g.10115448A>C	GRCh38
NC_000019.9:g.10226124A>C , CM000681.1:g.10226124A>C	GRCh37
NC_000019.8:g.10087124A>C	NCBI36
NG_047007.1:g.8928A>C
NG_051197.1:g.9477T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253108.9:c.947+31T>G MANE Select	ENSP00000253108.3:n.947+31T>G
ENST00000253108.8:c.947+31T>G	ENSP00000253108.3:n.947+31T>G
ENST00000590158.1:n.966+31T>G
ENST00000593054.5:c.341+31T>G	ENSP00000467187.1:n.341+31T>G
NM_003755.3:c.947+31T>G	NP_003746.2:n.947+31T>G
NM_003755.4:c.947+31T>G	NP_003746.2:n.947+31T>G
NM_003755.5:c.947+31T>G MANE Select	NP_003746.2:n.947+31T>G