Canonical Allele Identifier: CA3584821

Gene: DDX41

Linked Data

• ClinVar Variation Id: 1336306
• ClinVar RCV Id: RCV001817261 ; RCV002541982 ; RCV003956393
• dbSNP Id: rs61736556
• ExAC: 5:176940015 C / T
• gnomAD v2: 5-176940015-C-T
• gnomAD v3: 5-177513014-C-T
• gnomAD v4: 5-177513014-C-T
• MyVariant Identifiers: chr5:g.176940015C>T (hg19) ; chr5:g.177513014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177513014C>T , CM000667.2:g.177513014C>T	GRCh38
NC_000005.9:g.176940015C>T , CM000667.1:g.176940015C>T	GRCh37
NC_000005.8:g.176872621C>T	NCBI36
NG_046846.1:g.9313G>A
NG_046846.2:g.8948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330503.12:c.1299G>A MANE Select	ENSP00000330349.8:p.Pro433=
ENST00000507955.6:c.1446G>A	ENSP00000422753.2:n.1446G>A
ENST00000650742.1:n.1282G>A
ENST00000652565.1:n.414G>A
ENST00000652618.1:n.1296G>A
ENST00000652623.1:n.1371G>A
ENST00000330503.11:c.1353G>A	ENSP00000330349.7:p.Pro451=
ENST00000503078.5:n.1592G>A
ENST00000504807.5:n.410G>A
ENST00000505081.5:n.2166G>A
ENST00000507900.5:n.803G>A
ENST00000507955.5:c.1299G>A	ENSP00000422753.1:p.Pro433=
ENST00000512027.1:n.571G>A
NM_016222.2:c.1299G>A	NP_057306.2:p.Pro433=
XM_006714870.1:c.921G>A	XP_006714933.1:p.Pro307=
NM_001321732.1:c.921G>A	NP_001308661.1:p.Pro307=
NM_001321830.1:c.921G>A	NP_001308759.1:p.Pro307=
NM_016222.3:c.1299G>A	NP_057306.2:p.Pro433=
XM_024446109.1:c.942G>A	XP_024301877.1:p.Pro314=
NM_016222.4:c.1299G>A MANE Select	NP_057306.2:p.Pro433=
NM_001321732.2:c.921G>A	NP_001308661.1:p.Pro307=
NM_001321830.2:c.921G>A	NP_001308759.1:p.Pro307=