Canonical Allele Identifier: CA305200466

Gene: EIF3G

Linked Data

• dbSNP Id: rs796552351
• gnomAD v2: 19-10226293-G-T
• gnomAD v3: 19-10115617-G-T
• gnomAD v4: 19-10115617-G-T
• MyVariant Identifiers: chr19:g.10226293G>T (hg19) ; chr19:g.10226293_10226308delinsTCTAGGACAGGCGACC (hg19) ; chr19:g.10115617G>T (hg38) ; chr19:g.10115617_10115632delinsTCTAGGACAGGCGACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10115617G>T , CM000681.2:g.10115617G>T	GRCh38
NC_000019.9:g.10226293G>T , CM000681.1:g.10226293G>T	GRCh37
NC_000019.8:g.10087293G>T	NCBI36
NG_047007.1:g.9097G>T
NG_051197.1:g.9308C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253108.9:c.841-32C>A MANE Select	ENSP00000253108.3:n.841-32C>A
ENST00000253108.8:c.841-32C>A	ENSP00000253108.3:n.841-32C>A
ENST00000589454.5:c.817-32C>A	ENSP00000466860.1:n.817-32C>A
ENST00000590158.1:n.860-32C>A
ENST00000593054.5:c.235-32C>A	ENSP00000467187.1:n.235-32C>A
NM_003755.3:c.841-32C>A	NP_003746.2:n.841-32C>A
NM_003755.4:c.841-32C>A	NP_003746.2:n.841-32C>A
NM_003755.5:c.841-32C>A MANE Select	NP_003746.2:n.841-32C>A