Canonical Allele Identifier: CA149067

Gene: EIF2B3

Linked Data

• ClinVar Variation Id: 95945
• ClinVar RCV Id: RCV000081997 ; RCV000397648 ; RCV001521540
• dbSNP Id: rs77068026
• ExAC: 1:45340342 A / C
• gnomAD v2: 1-45340342-A-C
• gnomAD v3: 1-44874670-A-C
• gnomAD v4: 1-44874670-A-C
• MyVariant Identifiers: chr1:g.45340342A>C (hg19) ; chr1:g.44874670A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44874670A>C , CM000663.2:g.44874670A>C	GRCh38
NC_000001.10:g.45340342A>C , CM000663.1:g.45340342A>C	GRCh37
NC_000001.9:g.45112929A>C	NCBI36
NG_015864.1:g.117020T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.1202+8T>G MANE Select	ENSP00000353575.2:n.1202+8T>G
ENST00000360403.6:c.1202+8T>G	ENSP00000353575.2:n.1202+8T>G
ENST00000372183.7:c.1210T>G	ENSP00000361257.3:p.Ser404Ala
ENST00000439363.5:c.664+8T>G
ENST00000486491.1:n.154+8T>G
ENST00000620860.4:c.1202+8T>G	ENSP00000483996.1:n.1202+8T>G
NM_001166588.2:c.1210T>G	NP_001160060.1:p.Ser404Ala
NM_001261418.1:c.1202+8T>G	NP_001248347.1:n.1202+8T>G
NM_020365.4:c.1202+8T>G	NP_065098.1:n.1202+8T>G
XM_011542396.1:c.1112+8T>G	XP_011540698.1:n.1112+8T>G
XM_017002745.2:c.1202+8T>G	XP_016858234.1:n.1202+8T>G
XM_017002746.1:c.815+8T>G	XP_016858235.1:n.815+8T>G
XM_017002747.1:c.815+8T>G	XP_016858236.1:n.815+8T>G
NM_020365.5:c.1202+8T>G MANE Select	NP_065098.1:n.1202+8T>G
NM_001166588.3:c.1210T>G	NP_001160060.1:p.Ser404Ala
NM_001261418.2:c.1202+8T>G	NP_001248347.1:n.1202+8T>G