Canonical Allele Identifier: CA21761420

Gene: EIF2B3

Linked Data

• ClinVar Variation Id: 431961
• ClinVar RCV Id: RCV000498180 ; RCV000763340
• dbSNP Id: rs141988913
• gnomAD v2: 1-45444009-C-T
• gnomAD v3: 1-44978337-C-T
• gnomAD v4: 1-44978337-C-T
• MyVariant Identifiers: chr1:g.45444009C>T (hg19) ; chr1:g.44978337C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978337C>T , CM000663.2:g.44978337C>T	GRCh38
NC_000001.10:g.45444009C>T , CM000663.1:g.45444009C>T	GRCh37
NC_000001.9:g.45216596C>T	NCBI36
NG_015864.1:g.13353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.272G>A MANE Select	ENSP00000353575.2:p.Arg91His
ENST00000360403.6:c.272G>A	ENSP00000353575.2:p.Arg91His
ENST00000372182.6:n.385G>A
ENST00000372183.7:c.272G>A	ENSP00000361257.3:p.Arg91His
ENST00000477953.5:n.375G>A
ENST00000480675.5:c.272G>A	ENSP00000485842.1:p.Arg91His
ENST00000487532.5:n.384G>A
ENST00000497010.1:n.384G>A
ENST00000620860.4:c.272G>A	ENSP00000483996.1:p.Arg91His
NM_001166588.2:c.272G>A	NP_001160060.1:p.Arg91His
NM_001261418.1:c.272G>A	NP_001248347.1:p.Arg91His
NM_020365.4:c.272G>A	NP_065098.1:p.Arg91His
XM_011542396.1:c.272G>A	XP_011540698.1:p.Arg91His
XM_017002745.2:c.272G>A	XP_016858234.1:p.Arg91His
XM_017002746.1:c.-183G>A	XP_016858235.1:n.-183G>A
XM_017002747.1:c.-183G>A	XP_016858236.1:n.-183G>A
NM_020365.5:c.272G>A MANE Select	NP_065098.1:p.Arg91His
NM_001166588.3:c.272G>A	NP_001160060.1:p.Arg91His
NM_001261418.2:c.272G>A	NP_001248347.1:p.Arg91His