Canonical Allele Identifier: CA358663
Gene: DDX41 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177513396A>G , CM000667.2:g.177513396A>G GRCh38
NC_000005.9:g.176940397A>G , CM000667.1:g.176940397A>G GRCh37
NC_000005.8:g.176873003A>G NCBI36
NG_046846.1:g.8931T>C
NG_046846.2:g.8566T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330503.12:c.1187T>C MANE Select ENSP00000330349.8:p.Ile396Thr
ENST00000507955.6:c.1334T>C ENSP00000422753.2:n.1334T>C
ENST00000650742.1:n.1170T>C
ENST00000652565.1:n.302T>C
ENST00000652618.1:n.1184T>C
ENST00000652623.1:n.1259T>C
ENST00000330503.11:c.1241T>C ENSP00000330349.7:p.Ile414Thr
ENST00000503078.5:n.1480T>C
ENST00000504807.5:n.298T>C
ENST00000505081.5:n.2054T>C
ENST00000507900.5:n.691T>C
ENST00000507955.5:c.1187T>C ENSP00000422753.1:p.Ile396Thr
ENST00000511040.5:n.667T>C
ENST00000512027.1:n.189T>C
NM_016222.2:c.1187T>C NP_057306.2:p.Ile396Thr
XM_006714870.1:c.809T>C XP_006714933.1:p.Ile270Thr
NM_001321732.1:c.809T>C NP_001308661.1:p.Ile270Thr
NM_001321830.1:c.809T>C NP_001308759.1:p.Ile270Thr
NM_016222.3:c.1187T>C NP_057306.2:p.Ile396Thr
XM_024446109.1:c.830T>C XP_024301877.1:p.Ile277Thr
NM_016222.4:c.1187T>C MANE Select NP_057306.2:p.Ile396Thr
NM_001321732.2:c.809T>C NP_001308661.1:p.Ile270Thr
NM_001321830.2:c.809T>C NP_001308759.1:p.Ile270Thr