Canonical Allele Identifier: CA824034
Gene: EIF2B3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.44941553T>G
GRCh37 chr1:g.45407225T>G
Revel Score:
ENST00000360403 (MANE Select) 0.465
ENST00000372183 0.465
ENST00000372182 0.465
gnomAD v2:
1:45407225 T / G
gnomAD v3:
1:44941553 T / G
gnomAD v4:
chr1-44941553-T-G
Joint Max Group AF 0.0000326 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00003343 (NFE)
ClinVar RCV:
RCV001955769
RCV003331243
ClinVar Variation:
1443894
dbSNP:
113994023
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.44941553T>G , CM000663.2:g.44941553T>G GRCh38
NC_000001.10:g.45407225T>G , CM000663.1:g.45407225T>G GRCh37
NC_000001.9:g.45179812T>G NCBI36
NG_015864.1:g.50137A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360403.7:c.407A>C MANE Select ENSP00000353575.2:p.Gln136Pro
ENST00000360403.6:c.407A>C ENSP00000353575.2:p.Gln136Pro
ENST00000372182.6:n.520A>C
ENST00000372183.7:c.407A>C ENSP00000361257.3:p.Gln136Pro
ENST00000477953.5:n.577A>C
ENST00000480675.5:c.*87A>C ENSP00000485842.1:n.*87A>C
ENST00000620860.4:c.407A>C ENSP00000483996.1:p.Gln136Pro
NM_001166588.2:c.407A>C NP_001160060.1:p.Gln136Pro
NM_001261418.1:c.407A>C NP_001248347.1:p.Gln136Pro
NM_020365.4:c.407A>C NP_065098.1:p.Gln136Pro
XM_011542396.1:c.407A>C XP_011540698.1:p.Gln136Pro
XM_017002745.2:c.407A>C XP_016858234.1:p.Gln136Pro
XM_017002746.1:c.20A>C XP_016858235.1:p.Gln7Pro
XM_017002747.1:c.20A>C XP_016858236.1:p.Gln7Pro
NM_020365.5:c.407A>C MANE Select NP_065098.1:p.Gln136Pro
NM_001166588.3:c.407A>C NP_001160060.1:p.Gln136Pro
NM_001261418.2:c.407A>C NP_001248347.1:p.Gln136Pro
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