Canonical Allele Identifier: CA243604
Gene: DOK7 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3473645C>T , CM000666.2:g.3473645C>T GRCh38
NC_000004.11:g.3475372C>T , CM000666.1:g.3475372C>T GRCh37
NC_000004.10:g.3445170C>T NCBI36
NG_013072.2:g.15340C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340083.6:c.331+9C>T MANE Select ENSP00000344432.5:n.331+9C>T
ENST00000643608.1:c.100+10094C>T ENSP00000495701.1:n.100+10094C>T
ENST00000340083.5:c.331+9C>T ENSP00000344432.5:n.331+9C>T
ENST00000503688.5:n.165+10094C>T
ENST00000507039.5:c.331+9C>T ENSP00000423614.1:n.331+9C>T
ENST00000511267.5:n.350+9C>T
NM_001164673.1:c.331+9C>T NP_001158145.1:n.331+9C>T
NM_001301071.1:c.331+9C>T NP_001288000.1:n.331+9C>T
NM_173660.4:c.331+9C>T NP_775931.3:n.331+9C>T
XM_011513435.1:c.331+9C>T XP_011511737.1:n.331+9C>T
XM_011513436.1:c.331+9C>T XP_011511738.1:n.331+9C>T
XM_011513437.1:c.-73+9C>T XP_011511739.1:n.-73+9C>T
NM_001363811.1:c.100+10094C>T NP_001350740.1:n.100+10094C>T
XM_011513435.2:c.331+9C>T XP_011511737.1:n.331+9C>T
XM_011513437.2:c.-73+9C>T XP_011511739.1:n.-73+9C>T
NM_173660.5:c.331+9C>T MANE Select NP_775931.3:n.331+9C>T
NM_001164673.2:c.331+9C>T NP_001158145.1:n.331+9C>T
NM_001301071.2:c.331+9C>T NP_001288000.1:n.331+9C>T
NM_001363811.2:c.100+10094C>T NP_001350740.1:n.100+10094C>T