Canonical Allele Identifier: CA372763275
Gene: DOCK8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1348435
ClinVar RCV Id: RCV003772418
dbSNP Id: rs2131263007
gnomAD v4: 9-377097-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.377097A>G , CM000671.2:g.377097A>G GRCh38
NC_000009.11:g.377097A>G , CM000671.1:g.377097A>G GRCh37
NC_000009.10:g.367097A>G NCBI36
NG_017007.1:g.167233A>G , LRG_196:g.167233A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.2122A>G ENSP00000371766.2:p.Ser708Gly
ENST00000382331.6:n.823A>G
ENST00000483757.6:c.*1013A>G ENSP00000417691.2:n.*1013A>G
ENST00000682260.1:n.2222A>G
ENST00000685949.1:n.1114A>G
ENST00000432829.7:c.2326A>G MANE Select ENSP00000394888.3:p.Ser776Gly
ENST00000382329.1:c.727A>G ENSP00000371766.1:p.Ser243Gly
ENST00000382331.5:c.232A>G ENSP00000371768.1:p.Ser78Gly
ENST00000432829.6:c.2326A>G ENSP00000394888.3:p.Ser776Gly
ENST00000453981.5:c.2122A>G ENSP00000408464.2:p.Ser708Gly
ENST00000469391.5:c.2122A>G ENSP00000419438.1:p.Ser708Gly
ENST00000483757.5:c.*1801A>G ENSP00000417691.1:n.*1801A>G
ENST00000495184.5:n.4281A>G
NM_001190458.1:c.2122A>G NP_001177387.1:p.Ser708Gly
NM_001193536.1:c.2122A>G NP_001180465.1:p.Ser708Gly
NM_203447.3:c.2326A>G , LRG_196t1:c.2326A>G NP_982272.2:p.Ser776Gly
XM_011518045.1:c.2122A>G XP_011516347.1:p.Ser708Gly
XM_011518046.1:c.2188A>G XP_011516348.1:p.Ser730Gly
XM_011518047.1:c.2122A>G XP_011516349.1:p.Ser708Gly
XM_011518048.1:c.2122A>G XP_011516350.1:p.Ser708Gly
XM_011518049.1:c.562A>G XP_011516351.1:p.Ser188Gly
XM_011518045.3:c.2122A>G XP_011516347.1:p.Ser708Gly
XM_011518046.2:c.2188A>G XP_011516348.1:p.Ser730Gly
XM_011518047.3:c.2122A>G XP_011516349.1:p.Ser708Gly
XM_011518048.2:c.2122A>G XP_011516350.1:p.Ser708Gly
XM_011518049.2:c.562A>G XP_011516351.1:p.Ser188Gly
XM_017015173.1:c.2122A>G XP_016870662.1:p.Ser708Gly
XM_017015174.1:c.2188A>G XP_016870663.1:p.Ser730Gly
NM_001190458.2:c.2122A>G NP_001177387.1:p.Ser708Gly
NM_001193536.2:c.2122A>G NP_001180465.1:p.Ser708Gly
NM_203447.4:c.2326A>G MANE Select NP_982272.2:p.Ser776Gly