Canonical Allele Identifier: CA072580

Gene: CHRD EIF2B5

Linked Data

• ClinVar Variation Id: 221946
• ClinVar RCV Id: RCV000207411
• dbSNP Id: rs145871696
• ExAC: 3:184101360 C / G
• gnomAD v2: 3-184101360-C-G
• gnomAD v3: 3-184383572-C-G
• gnomAD v4: 3-184383572-C-G
• MyVariant Identifiers: chr3:g.184101360C>G (hg19) ; chr3:g.184383572C>G (hg38)
• PubMed: PMID:26893459

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184383572C>G , CM000665.2:g.184383572C>G	GRCh38
NC_000003.11:g.184101360C>G , CM000665.1:g.184101360C>G	GRCh37
NC_000003.10:g.185584054C>G	NCBI36
NG_029559.1:g.8500C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000204604.6:c.1370C>G (CHRD) MANE Select	ENSP00000204604.1:p.Thr457Ser
ENST00000204604.5:c.1370C>G (CHRD)	ENSP00000204604.1:p.Thr457Ser
ENST00000348986.3:c.1320+154C>G (CHRD)	ENSP00000334036.4:n.1320+154C>G
ENST00000420973.5:c.*288C>G (CHRD)	ENSP00000392794.1:n.*288C>G
ENST00000444495.1:c.2106+238865C>G (EIF2B5)	ENSP00000409142.1:n.2106+238865C>G
ENST00000448472.5:c.*1111C>G (CHRD)	ENSP00000408624.1:n.*1111C>G
ENST00000450923.5:c.1370C>G (CHRD)	ENSP00000408972.1:p.Thr457Ser
ENST00000460627.5:n.2393C>G (CHRD)
ENST00000470150.5:n.1526C>G (CHRD)
NM_001304472.1:c.1370C>G (CHRD)	NP_001291401.1:p.Thr457Ser
NM_001304473.1:c.260C>G (CHRD)	NP_001291402.1:p.Thr87Ser
NM_001304474.1:c.260C>G (CHRD)	NP_001291403.1:p.Thr87Ser
NM_003741.3:c.1370C>G (CHRD)	NP_003732.2:p.Thr457Ser
NR_130747.1:n.1774C>G (CHRD)
XM_011513254.1:c.1370C>G (CHRD)	XP_011511556.1:p.Thr457Ser
XM_011513255.1:c.1370C>G (CHRD)	XP_011511557.1:p.Thr457Ser
XM_011513256.1:c.260C>G (CHRD)	XP_011511558.1:p.Thr87Ser
XR_924203.1:n.1469C>G (CHRD)
XM_017007388.1:c.1451C>G (CHRD)	XP_016862877.1:p.Thr484Ser
XM_017007389.1:c.1451C>G (CHRD)	XP_016862878.1:p.Thr484Ser
XM_017007390.1:c.1451C>G (CHRD)	XP_016862879.1:p.Thr484Ser
XM_017007391.1:c.1451C>G (CHRD)	XP_016862880.1:p.Thr484Ser
XM_017007392.1:c.1370C>G (CHRD)	XP_016862881.1:p.Thr457Ser
XM_017007393.1:c.1451C>G (CHRD)	XP_016862882.1:p.Thr484Ser
XM_017007394.1:c.404C>G (CHRD)	XP_016862883.1:p.Thr135Ser
XM_024453803.1:c.260C>G (CHRD)	XP_024309571.1:p.Thr87Ser
XR_001740334.1:n.1550C>G (CHRD)
XR_001740335.1:n.1550C>G (CHRD)
XR_001740336.1:n.1550C>G (CHRD)
XR_001740337.1:n.1469C>G (CHRD)
XR_002959603.1:n.1550C>G (CHRD)
NM_001304473.2:c.260C>G (CHRD)	NP_001291402.1:p.Thr87Ser
NM_001304474.2:c.260C>G (CHRD)	NP_001291403.1:p.Thr87Ser
NR_130747.2:n.1537C>G (CHRD)
NM_001304472.2:c.1370C>G (CHRD)	NP_001291401.1:p.Thr457Ser
NM_003741.4:c.1370C>G (CHRD) MANE Select	NP_003732.2:p.Thr457Ser