Canonical Allele Identifier: CA2828855
Gene: DOK7 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.3463533A>C
GRCh37 chr4:g.3465260A>C
Revel Score:
ENST00000389653 0.538
ENST00000507039 0.538
ENST00000340083 (MANE Select) 0.538
gnomAD v2:
4:3465260 A / C
gnomAD v3:
4:3463533 A / C
gnomAD v4:
chr4-3463533-A-C
Joint Max Group AF 0.003021 (SAS)
Genomes Max Group AF 0.00173571 (SAS)
Exomes Max Group AF 0.00303357 (SAS)
ClinVar RCV:
RCV000591680
RCV001394847
ClinVar Variation:
499532
dbSNP:
576215366
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3463533A>C , CM000666.2:g.3463533A>C GRCh38
NC_000004.11:g.3465260A>C , CM000666.1:g.3465260A>C GRCh37
NC_000004.10:g.3435058A>C NCBI36
NG_013072.2:g.5228A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340083.6:c.82A>C MANE Select ENSP00000344432.5:p.Lys28Gln
ENST00000643608.1:c.82A>C ENSP00000495701.1:p.Lys28Gln
ENST00000340083.5:c.82A>C ENSP00000344432.5:p.Lys28Gln
ENST00000503688.5:n.147A>C
ENST00000507039.5:c.82A>C ENSP00000423614.1:p.Lys28Gln
ENST00000511267.5:n.119+104A>C
NM_001164673.1:c.82A>C NP_001158145.1:p.Lys28Gln
NM_001301071.1:c.82A>C NP_001288000.1:p.Lys28Gln
NM_173660.4:c.82A>C NP_775931.3:p.Lys28Gln
XM_011513435.1:c.82A>C XP_011511737.1:p.Lys28Gln
XM_011513436.1:c.82A>C XP_011511738.1:p.Lys28Gln
XM_011513437.1:c.-322A>C XP_011511739.1:n.-322A>C
NM_001363811.1:c.82A>C NP_001350740.1:p.Lys28Gln
XM_011513435.2:c.82A>C XP_011511737.1:p.Lys28Gln
XM_011513437.2:c.-322A>C XP_011511739.1:n.-322A>C
NM_173660.5:c.82A>C MANE Select NP_775931.3:p.Lys28Gln
NM_001164673.2:c.82A>C NP_001158145.1:p.Lys28Gln
NM_001301071.2:c.82A>C NP_001288000.1:p.Lys28Gln
NM_001363811.2:c.82A>C NP_001350740.1:p.Lys28Gln
Search 100 bp 5'
Search 100 bp 3'