Canonical Allele Identifier: CA9186805
Gene: EIF3G HGNC NCBI

Linked Data

dbSNP Id: rs145694767
ExAC: 19:10226250 G / A
gnomAD v2: 19-10226250-G-A
gnomAD v4: 19-10115574-G-A
MyVariant Identifiers: chr19:g.10226250G>A (hg19) chr19:g.10115574G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10115574G>A , CM000681.2:g.10115574G>A GRCh38
NC_000019.9:g.10226250G>A , CM000681.1:g.10226250G>A GRCh37
NC_000019.8:g.10087250G>A NCBI36
NG_047007.1:g.9054G>A
NG_051197.1:g.9351C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253108.9:c.852C>T MANE Select ENSP00000253108.3:p.Phe284=
ENST00000253108.8:c.852C>T ENSP00000253108.3:p.Phe284=
ENST00000589454.5:c.828C>T ENSP00000466860.1:p.Phe276=
ENST00000590158.1:n.871C>T
ENST00000593054.5:c.246C>T ENSP00000467187.1:p.Phe82=
NM_003755.3:c.852C>T NP_003746.2:p.Phe284=
NM_003755.4:c.852C>T NP_003746.2:p.Phe284=
NM_003755.5:c.852C>T MANE Select NP_003746.2:p.Phe284=
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