Canonical Allele Identifier: CA305200257

Gene: EIF3G

Linked Data

• dbSNP Id: rs769441800
• gnomAD v2: 19-10226099-G-A
• gnomAD v3: 19-10115423-G-A
• gnomAD v4: 19-10115423-G-A
• MyVariant Identifiers: chr19:g.10226099G>A (hg19) ; chr19:g.10115423G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10115423G>A , CM000681.2:g.10115423G>A	GRCh38
NC_000019.9:g.10226099G>A , CM000681.1:g.10226099G>A	GRCh37
NC_000019.8:g.10087099G>A	NCBI36
NG_047007.1:g.8903G>A
NG_051197.1:g.9502C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000253108.9:c.947+56C>T MANE Select	ENSP00000253108.3:n.947+56C>T
ENST00000253108.8:c.947+56C>T	ENSP00000253108.3:n.947+56C>T
ENST00000590158.1:n.966+56C>T
ENST00000593054.5:c.341+56C>T	ENSP00000467187.1:n.341+56C>T
NM_003755.3:c.947+56C>T	NP_003746.2:n.947+56C>T
NM_003755.4:c.947+56C>T	NP_003746.2:n.947+56C>T
NM_003755.5:c.947+56C>T MANE Select	NP_003746.2:n.947+56C>T