Canonical Allele Identifier: CA463699925
Gene: DOCK8 HGNC NCBI

Linked Data

dbSNP Id: rs1165725101
gnomAD v2: 9-441360-G-A
gnomAD v4: 9-441360-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.441360G>A , CM000671.2:g.441360G>A GRCh38
NC_000009.11:g.441360G>A , CM000671.1:g.441360G>A GRCh37
NC_000009.10:g.431360G>A NCBI36
NG_017007.1:g.231496G>A , LRG_196:g.231496G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382329.2:c.4998G>A ENSP00000371766.2:p.Arg1666=
ENST00000683406.1:n.1773G>A
ENST00000684637.1:n.979G>A
ENST00000685949.1:n.4086G>A
ENST00000432829.7:c.5298G>A MANE Select ENSP00000394888.3:p.Arg1766=
ENST00000382329.1:c.3699G>A ENSP00000371766.1:p.Arg1233=
ENST00000432829.6:c.5298G>A ENSP00000394888.3:p.Arg1766=
ENST00000453981.5:c.5094G>A ENSP00000408464.2:p.Arg1698=
ENST00000469391.5:c.4998G>A ENSP00000419438.1:p.Arg1666=
ENST00000495184.5:n.7253G>A
NM_001190458.1:c.4998G>A NP_001177387.1:p.Arg1666=
NM_001193536.1:c.5094G>A NP_001180465.1:p.Arg1698=
NM_203447.3:c.5298G>A , LRG_196t1:c.5298G>A NP_982272.2:p.Arg1766=
XM_011518045.1:c.4998G>A XP_011516347.1:p.Arg1666=
XM_011518046.1:c.5160G>A XP_011516348.1:p.Arg1720=
XM_011518047.1:c.5094G>A XP_011516349.1:p.Arg1698=
XM_011518048.1:c.5094G>A XP_011516350.1:p.Arg1698=
XM_011518049.1:c.3534G>A XP_011516351.1:p.Arg1178=
XM_011518045.3:c.4998G>A XP_011516347.1:p.Arg1666=
XM_011518046.2:c.5160G>A XP_011516348.1:p.Arg1720=
XM_011518047.3:c.5094G>A XP_011516349.1:p.Arg1698=
XM_011518048.2:c.5094G>A XP_011516350.1:p.Arg1698=
XM_011518049.2:c.3534G>A XP_011516351.1:p.Arg1178=
XM_017015173.1:c.5094G>A XP_016870662.1:p.Arg1698=
XM_017015174.1:c.5160G>A XP_016870663.1:p.Arg1720=
NM_001190458.2:c.4998G>A NP_001177387.1:p.Arg1666=
NM_001193536.2:c.5094G>A NP_001180465.1:p.Arg1698=
NM_203447.4:c.5298G>A MANE Select NP_982272.2:p.Arg1766=