Canonical Allele Identifier: CA2829557
Gene: DOK7 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.3493493C>A
GRCh37 chr4:g.3495220C>A
Revel Score:
ENST00000340083 (MANE Select) 0.097
gnomAD v2:
4:3495220 C / A
gnomAD v3:
4:3493493 C / A
gnomAD v4:
chr4-3493493-C-A
Joint Max Group AF 0.00388978 (SAS)
Genomes Max Group AF 0.00191388 (SAS)
Exomes Max Group AF 0.00394063 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3493493C>A , CM000666.2:g.3493493C>A GRCh38
NC_000004.11:g.3495220C>A , CM000666.1:g.3495220C>A GRCh37
NC_000004.10:g.3465018C>A NCBI36
NG_013072.2:g.35188C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340083.6:c.1507C>A MANE Select ENSP00000344432.5:p.Pro503Thr
ENST00000643608.1:c.1065+10C>A ENSP00000495701.1:n.1065+10C>A
ENST00000340083.5:c.1507C>A ENSP00000344432.5:p.Pro503Thr
ENST00000507039.5:c.*728C>A ENSP00000423614.1:n.*728C>A
ENST00000512714.1:n.689+10C>A
ENST00000515886.5:n.1275C>A
NM_001164673.1:c.*728C>A NP_001158145.1:n.*728C>A
NM_001256896.1:c.577C>A NP_001243825.1:p.Pro193Thr
NM_001301071.1:c.1497+10C>A NP_001288000.1:n.1497+10C>A
NM_173660.4:c.1507C>A NP_775931.3:p.Pro503Thr
XM_011513435.1:c.1497+10C>A XP_011511737.1:n.1497+10C>A
XM_011513436.1:c.1497+10C>A XP_011511738.1:n.1497+10C>A
XM_011513437.1:c.1083+10C>A XP_011511739.1:n.1083+10C>A
NM_001363811.1:c.1065+10C>A NP_001350740.1:n.1065+10C>A
XM_011513435.2:c.1497+10C>A XP_011511737.1:n.1497+10C>A
XM_011513437.2:c.1083+10C>A XP_011511739.1:n.1083+10C>A
NM_173660.5:c.1507C>A MANE Select NP_775931.3:p.Pro503Thr
NM_001164673.2:c.*728C>A NP_001158145.1:n.*728C>A
NM_001301071.2:c.1497+10C>A NP_001288000.1:n.1497+10C>A
NM_001363811.2:c.1065+10C>A NP_001350740.1:n.1065+10C>A
NM_001256896.2:c.577C>A NP_001243825.1:p.Pro193Thr
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