Canonical Allele Identifier: CA358659

Gene: DDX41

Linked Data

• ClinVar Variation Id: 224634
• ClinVar RCV Id: RCV000210250 ; RCV002288840
• dbSNP Id: rs869312828
• COSMIC: COSM166515
• MyVariant Identifiers: chr5:g.176939370C>T (hg19) ; chr5:g.177512369C>T (hg38)
• PubMed: PMID:25920683 ; PMID:26712909

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177512369C>T , CM000667.2:g.177512369C>T	GRCh38
NC_000005.9:g.176939370C>T , CM000667.1:g.176939370C>T	GRCh37
NC_000005.8:g.176871976C>T	NCBI36
NG_046846.1:g.9958G>A
NG_046846.2:g.9593G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330503.12:c.1574G>A MANE Select	ENSP00000330349.8:p.Arg525His
ENST00000507955.6:c.1721G>A	ENSP00000422753.2:n.1721G>A
ENST00000650742.1:n.1557G>A
ENST00000652565.1:n.689G>A
ENST00000652618.1:n.1571G>A
ENST00000652623.1:n.1646G>A
ENST00000330503.11:c.1628G>A	ENSP00000330349.7:p.Arg543His
ENST00000503078.5:n.1867G>A
ENST00000505081.5:n.2441G>A
ENST00000507900.5:n.1078G>A
ENST00000507955.5:c.1574G>A	ENSP00000422753.1:p.Arg525His
ENST00000512334.5:n.177G>A
NM_016222.2:c.1574G>A	NP_057306.2:p.Arg525His
XM_006714870.1:c.1196G>A	XP_006714933.1:p.Arg399His
NM_001321732.1:c.1196G>A	NP_001308661.1:p.Arg399His
NM_001321830.1:c.1196G>A	NP_001308759.1:p.Arg399His
NM_016222.3:c.1574G>A	NP_057306.2:p.Arg525His
XM_024446109.1:c.1217G>A	XP_024301877.1:p.Arg406His
NM_016222.4:c.1574G>A MANE Select	NP_057306.2:p.Arg525His
NM_001321732.2:c.1196G>A	NP_001308661.1:p.Arg399His
NM_001321830.2:c.1196G>A	NP_001308759.1:p.Arg399His