Canonical Allele Identifier: CA783165834

Gene: EIF3G

Linked Data

• dbSNP Id: rs1449536037
• gnomAD v4: 19-10115439-A-G
• MyVariant Identifiers: chr19:g.10226115A>G (hg19) ; chr19:g.10115439A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10115439A>G , CM000681.2:g.10115439A>G	GRCh38
NC_000019.9:g.10226115A>G , CM000681.1:g.10226115A>G	GRCh37
NC_000019.8:g.10087115A>G	NCBI36
NG_047007.1:g.8919A>G
NG_051197.1:g.9486T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253108.9:c.947+40T>C MANE Select	ENSP00000253108.3:n.947+40T>C
ENST00000253108.8:c.947+40T>C	ENSP00000253108.3:n.947+40T>C
ENST00000590158.1:n.966+40T>C
ENST00000593054.5:c.341+40T>C	ENSP00000467187.1:n.341+40T>C
NM_003755.3:c.947+40T>C	NP_003746.2:n.947+40T>C
NM_003755.4:c.947+40T>C	NP_003746.2:n.947+40T>C
NM_003755.5:c.947+40T>C MANE Select	NP_003746.2:n.947+40T>C