Canonical Allele Identifier: CA340258

Gene: EIF2B3

Linked Data

• ClinVar Variation Id: 4440
• ClinVar RCV Id: RCV000004690 ; RCV003221407
• dbSNP Id: rs119474039
• MyVariant Identifiers: chr1:g.45341306A>G (hg19) ; chr1:g.44875634A>G (hg38)
• PubMed: PMID:19158808

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44875634A>G , CM000663.2:g.44875634A>G	GRCh38
NC_000001.10:g.45341306A>G , CM000663.1:g.45341306A>G	GRCh37
NC_000001.9:g.45113893A>G	NCBI36
NG_015864.1:g.116056T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.1037T>C MANE Select	ENSP00000353575.2:p.Ile346Thr
ENST00000360403.6:c.1037T>C	ENSP00000353575.2:p.Ile346Thr
ENST00000372183.7:c.1037T>C	ENSP00000361257.3:p.Ile346Thr
ENST00000439363.5:c.499T>C
ENST00000620860.4:c.1037T>C	ENSP00000483996.1:p.Ile346Thr
NM_001166588.2:c.1037T>C	NP_001160060.1:p.Ile346Thr
NM_001261418.1:c.1037T>C	NP_001248347.1:p.Ile346Thr
NM_020365.4:c.1037T>C	NP_065098.1:p.Ile346Thr
XM_011542396.1:c.947T>C	XP_011540698.1:p.Ile316Thr
XM_017002745.2:c.1037T>C	XP_016858234.1:p.Ile346Thr
XM_017002746.1:c.650T>C	XP_016858235.1:p.Ile217Thr
XM_017002747.1:c.650T>C	XP_016858236.1:p.Ile217Thr
NM_020365.5:c.1037T>C MANE Select	NP_065098.1:p.Ile346Thr
NM_001166588.3:c.1037T>C	NP_001160060.1:p.Ile346Thr
NM_001261418.2:c.1037T>C	NP_001248347.1:p.Ile346Thr