Canonical Allele Identifier: CA185978
Gene: EIF3G HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.10116334A>G
GRCh37 chr19:g.10227010A>G
gnomAD v2:
19:10227010 A / G
gnomAD v3:
19:10116334 A / G
gnomAD v4:
chr19-10116334-A-G
Joint Max Group AF 0.70925743 (EAS)
Genomes Max Group AF 0.70563946 (EAS)
Exomes Max Group AF 0.70709634 (EAS)
ClinVar RCV:
RCV000161133
ClinVar Variation:
180730
dbSNP:
3826784
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10116334A>G , CM000681.2:g.10116334A>G GRCh38
NC_000019.9:g.10227010A>G , CM000681.1:g.10227010A>G GRCh37
NC_000019.8:g.10088010A>G NCBI36
NG_047007.1:g.9814A>G
NG_051197.1:g.8591T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253108.9:c.596-260T>C MANE Select ENSP00000253108.3:n.596-260T>C
ENST00000253108.8:c.596-260T>C ENSP00000253108.3:n.596-260T>C
ENST00000587146.5:c.491-260T>C ENSP00000468159.1:n.491-260T>C
ENST00000588709.5:c.602-260T>C ENSP00000465882.1:n.602-260T>C
ENST00000589009.5:n.1238T>C
ENST00000589454.5:c.572-260T>C ENSP00000466860.1:n.572-260T>C
ENST00000590158.1:n.355T>C
ENST00000593054.5:c.29-260T>C ENSP00000467187.1:n.29-260T>C
NM_003755.3:c.596-260T>C NP_003746.2:n.596-260T>C
NM_003755.4:c.596-260T>C NP_003746.2:n.596-260T>C
NM_003755.5:c.596-260T>C MANE Select NP_003746.2:n.596-260T>C
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