Canonical Allele Identifier: CA4958158

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 77679
• ClinVar RCV Id: RCV000811391 ; RCV001818235 ; RCV002262619 ; RCV003595859
• dbSNP Id: rs267602235
• ExAC: 9:377067 G / A
• gnomAD v2: 9-377067-G-A
• gnomAD v3: 9-377067-G-A
• gnomAD v4: 9-377067-G-A
• COSMIC: COSM280574 ; COSM280575
• MyVariant Identifiers: chr9:g.377067G>A (hg19) ; chr9:g.377067G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377067G>A , CM000671.2:g.377067G>A	GRCh38
NC_000009.11:g.377067G>A , CM000671.1:g.377067G>A	GRCh37
NC_000009.10:g.367067G>A	NCBI36
NG_017007.1:g.167203G>A , LRG_196:g.167203G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2092G>A	ENSP00000371766.2:p.Glu698Lys
ENST00000382331.6:n.793G>A
ENST00000483757.6:c.*983G>A	ENSP00000417691.2:n.*983G>A
ENST00000682260.1:n.2192G>A
ENST00000685949.1:n.1084G>A
ENST00000432829.7:c.2296G>A MANE Select	ENSP00000394888.3:p.Glu766Lys
ENST00000382329.1:c.697G>A	ENSP00000371766.1:p.Glu233Lys
ENST00000382331.5:c.202G>A	ENSP00000371768.1:p.Glu68Lys
ENST00000432829.6:c.2296G>A	ENSP00000394888.3:p.Glu766Lys
ENST00000453981.5:c.2092G>A	ENSP00000408464.2:p.Glu698Lys
ENST00000469391.5:c.2092G>A	ENSP00000419438.1:p.Glu698Lys
ENST00000483757.5:c.*1771G>A	ENSP00000417691.1:n.*1771G>A
ENST00000495184.5:n.4251G>A
NM_001190458.1:c.2092G>A	NP_001177387.1:p.Glu698Lys
NM_001193536.1:c.2092G>A	NP_001180465.1:p.Glu698Lys
NM_203447.3:c.2296G>A , LRG_196t1:c.2296G>A	NP_982272.2:p.Glu766Lys
XM_011518045.1:c.2092G>A	XP_011516347.1:p.Glu698Lys
XM_011518046.1:c.2158G>A	XP_011516348.1:p.Glu720Lys
XM_011518047.1:c.2092G>A	XP_011516349.1:p.Glu698Lys
XM_011518048.1:c.2092G>A	XP_011516350.1:p.Glu698Lys
XM_011518049.1:c.532G>A	XP_011516351.1:p.Glu178Lys
XM_011518045.3:c.2092G>A	XP_011516347.1:p.Glu698Lys
XM_011518046.2:c.2158G>A	XP_011516348.1:p.Glu720Lys
XM_011518047.3:c.2092G>A	XP_011516349.1:p.Glu698Lys
XM_011518048.2:c.2092G>A	XP_011516350.1:p.Glu698Lys
XM_011518049.2:c.532G>A	XP_011516351.1:p.Glu178Lys
XM_017015173.1:c.2092G>A	XP_016870662.1:p.Glu698Lys
XM_017015174.1:c.2158G>A	XP_016870663.1:p.Glu720Lys
NM_001190458.2:c.2092G>A	NP_001177387.1:p.Glu698Lys
NM_001193536.2:c.2092G>A	NP_001180465.1:p.Glu698Lys
NM_203447.4:c.2296G>A MANE Select	NP_982272.2:p.Glu766Lys