Canonical Allele Identifier: CA403957835
Gene: EIF3G HGNC NCBI

Linked Data

dbSNP Id: rs1391399171
gnomAD v2: 19-10226218-C-T
gnomAD v3: 19-10115542-C-T
gnomAD v4: 19-10115542-C-T
MyVariant Identifiers: chr19:g.10226218C>T (hg19) chr19:g.10115542C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10115542C>T , CM000681.2:g.10115542C>T GRCh38
NC_000019.9:g.10226218C>T , CM000681.1:g.10226218C>T GRCh37
NC_000019.8:g.10087218C>T NCBI36
NG_047007.1:g.9022C>T
NG_051197.1:g.9383G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253108.9:c.884G>A MANE Select ENSP00000253108.3:p.Arg295His
ENST00000253108.8:c.884G>A ENSP00000253108.3:p.Arg295His
ENST00000589454.5:c.860G>A ENSP00000466860.1:p.Arg287His
ENST00000590158.1:n.903G>A
ENST00000593054.5:c.278G>A ENSP00000467187.1:p.Arg93His
NM_003755.3:c.884G>A NP_003746.2:p.Arg295His
NM_003755.4:c.884G>A NP_003746.2:p.Arg295His
NM_003755.5:c.884G>A MANE Select NP_003746.2:p.Arg295His
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Search 100 bp 3'