Canonical Allele Identifier: CA631709052

Gene: EIF3G

Linked Data

• dbSNP Id: rs565920145
• gnomAD v2: 19-10226098-C-A
• gnomAD v3: 19-10115422-C-A
• gnomAD v4: 19-10115422-C-A
• MyVariant Identifiers: chr19:g.10226098C>A (hg19) ; chr19:g.10115422C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10115422C>A , CM000681.2:g.10115422C>A	GRCh38
NC_000019.9:g.10226098C>A , CM000681.1:g.10226098C>A	GRCh37
NC_000019.8:g.10087098C>A	NCBI36
NG_047007.1:g.8902C>A
NG_051197.1:g.9503G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000253108.9:c.947+57G>T MANE Select	ENSP00000253108.3:n.947+57G>T
ENST00000253108.8:c.947+57G>T	ENSP00000253108.3:n.947+57G>T
ENST00000590158.1:n.966+57G>T
ENST00000593054.5:c.341+57G>T	ENSP00000467187.1:n.341+57G>T
NM_003755.3:c.947+57G>T	NP_003746.2:n.947+57G>T
NM_003755.4:c.947+57G>T	NP_003746.2:n.947+57G>T
NM_003755.5:c.947+57G>T MANE Select	NP_003746.2:n.947+57G>T