Canonical Allele Identifier: CA2829224
Gene: DOK7 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3492767C>G , CM000666.2:g.3492767C>G GRCh38
NC_000004.11:g.3494494C>G , CM000666.1:g.3494494C>G GRCh37
NC_000004.10:g.3464292C>G NCBI36
NG_013072.2:g.34462C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340083.6:c.781C>G MANE Select ENSP00000344432.5:p.Arg261Gly
ENST00000643608.1:c.349C>G ENSP00000495701.1:p.Arg117Gly
ENST00000340083.5:c.781C>G ENSP00000344432.5:p.Arg261Gly
ENST00000503688.5:n.414C>G
ENST00000507039.5:c.*2C>G ENSP00000423614.1:n.*2C>G
ENST00000513995.1:n.439C>G
ENST00000515886.5:n.549C>G
NM_001164673.1:c.*2C>G NP_001158145.1:n.*2C>G
NM_001256896.1:c.-150C>G NP_001243825.1:n.-150C>G
NM_001301071.1:c.781C>G NP_001288000.1:p.Arg261Gly
NM_173660.4:c.781C>G NP_775931.3:p.Arg261Gly
XM_011513435.1:c.781C>G XP_011511737.1:p.Arg261Gly
XM_011513436.1:c.781C>G XP_011511738.1:p.Arg261Gly
XM_011513437.1:c.367C>G XP_011511739.1:p.Arg123Gly
NM_001363811.1:c.349C>G NP_001350740.1:p.Arg117Gly
XM_011513435.2:c.781C>G XP_011511737.1:p.Arg261Gly
XM_011513437.2:c.367C>G XP_011511739.1:p.Arg123Gly
NM_173660.5:c.781C>G MANE Select NP_775931.3:p.Arg261Gly
NM_001164673.2:c.*2C>G NP_001158145.1:n.*2C>G
NM_001301071.2:c.781C>G NP_001288000.1:p.Arg261Gly
NM_001363811.2:c.349C>G NP_001350740.1:p.Arg117Gly
NM_001256896.2:c.-150C>G NP_001243825.1:n.-150C>G