Canonical Allele Identifier: CA187814824

Gene: DOCK8

Linked Data

• dbSNP Id: rs571578260
• gnomAD v3: 9-377163-A-G
• gnomAD v4: 9-377163-A-G
• MyVariant Identifiers: chr9:g.377163A>G (hg19) ; chr9:g.377163A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377163A>G , CM000671.2:g.377163A>G	GRCh38
NC_000009.11:g.377163A>G , CM000671.1:g.377163A>G	GRCh37
NC_000009.10:g.367163A>G	NCBI36
NG_017007.1:g.167299A>G , LRG_196:g.167299A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2188A>G	ENSP00000371766.2:p.Lys730Glu
ENST00000382331.6:n.889A>G
ENST00000483757.6:c.*1079A>G	ENSP00000417691.2:n.*1079A>G
ENST00000682260.1:n.2288A>G
ENST00000685949.1:n.1180A>G
ENST00000432829.7:c.2392A>G MANE Select	ENSP00000394888.3:p.Lys798Glu
ENST00000382329.1:c.793A>G	ENSP00000371766.1:p.Lys265Glu
ENST00000382331.5:c.298A>G	ENSP00000371768.1:p.Lys100Glu
ENST00000432829.6:c.2392A>G	ENSP00000394888.3:p.Lys798Glu
ENST00000453981.5:c.2188A>G	ENSP00000408464.2:p.Lys730Glu
ENST00000469391.5:c.2188A>G	ENSP00000419438.1:p.Lys730Glu
ENST00000483757.5:c.*1867A>G	ENSP00000417691.1:n.*1867A>G
ENST00000495184.5:n.4347A>G
NM_001190458.1:c.2188A>G	NP_001177387.1:p.Lys730Glu
NM_001193536.1:c.2188A>G	NP_001180465.1:p.Lys730Glu
NM_203447.3:c.2392A>G , LRG_196t1:c.2392A>G	NP_982272.2:p.Lys798Glu
XM_011518045.1:c.2188A>G	XP_011516347.1:p.Lys730Glu
XM_011518046.1:c.2254A>G	XP_011516348.1:p.Lys752Glu
XM_011518047.1:c.2188A>G	XP_011516349.1:p.Lys730Glu
XM_011518048.1:c.2188A>G	XP_011516350.1:p.Lys730Glu
XM_011518049.1:c.628A>G	XP_011516351.1:p.Lys210Glu
XM_011518045.3:c.2188A>G	XP_011516347.1:p.Lys730Glu
XM_011518046.2:c.2254A>G	XP_011516348.1:p.Lys752Glu
XM_011518047.3:c.2188A>G	XP_011516349.1:p.Lys730Glu
XM_011518048.2:c.2188A>G	XP_011516350.1:p.Lys730Glu
XM_011518049.2:c.628A>G	XP_011516351.1:p.Lys210Glu
XM_017015173.1:c.2188A>G	XP_016870662.1:p.Lys730Glu
XM_017015174.1:c.2254A>G	XP_016870663.1:p.Lys752Glu
NM_001190458.2:c.2188A>G	NP_001177387.1:p.Lys730Glu
NM_001193536.2:c.2188A>G	NP_001180465.1:p.Lys730Glu
NM_203447.4:c.2392A>G MANE Select	NP_982272.2:p.Lys798Glu