Canonical Allele Identifier: CA4958155

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 366864
• ClinVar RCV Id: RCV000697622 ; RCV001251748 ; RCV002508933
• dbSNP Id: rs148693111
• ExAC: 9:377046 G / A
• gnomAD v2: 9-377046-G-A
• gnomAD v3: 9-377046-G-A
• gnomAD v4: 9-377046-G-A
• COSMIC: COSM1109016 ; COSM1109017
• MyVariant Identifiers: chr9:g.377046G>A (hg19) ; chr9:g.377046G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377046G>A , CM000671.2:g.377046G>A	GRCh38
NC_000009.11:g.377046G>A , CM000671.1:g.377046G>A	GRCh37
NC_000009.10:g.367046G>A	NCBI36
NG_017007.1:g.167182G>A , LRG_196:g.167182G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.2071G>A	ENSP00000371766.2:p.Val691Met
ENST00000382331.6:n.772G>A
ENST00000483757.6:c.*962G>A	ENSP00000417691.2:n.*962G>A
ENST00000682260.1:n.2171G>A
ENST00000685949.1:n.1063G>A
ENST00000432829.7:c.2275G>A MANE Select	ENSP00000394888.3:p.Val759Met
ENST00000382329.1:c.676G>A	ENSP00000371766.1:p.Val226Met
ENST00000382331.5:c.181G>A	ENSP00000371768.1:p.Val61Met
ENST00000432829.6:c.2275G>A	ENSP00000394888.3:p.Val759Met
ENST00000453981.5:c.2071G>A	ENSP00000408464.2:p.Val691Met
ENST00000469391.5:c.2071G>A	ENSP00000419438.1:p.Val691Met
ENST00000483757.5:c.*1750G>A	ENSP00000417691.1:n.*1750G>A
ENST00000495184.5:n.4230G>A
NM_001190458.1:c.2071G>A	NP_001177387.1:p.Val691Met
NM_001193536.1:c.2071G>A	NP_001180465.1:p.Val691Met
NM_203447.3:c.2275G>A , LRG_196t1:c.2275G>A	NP_982272.2:p.Val759Met
XM_011518045.1:c.2071G>A	XP_011516347.1:p.Val691Met
XM_011518046.1:c.2137G>A	XP_011516348.1:p.Val713Met
XM_011518047.1:c.2071G>A	XP_011516349.1:p.Val691Met
XM_011518048.1:c.2071G>A	XP_011516350.1:p.Val691Met
XM_011518049.1:c.511G>A	XP_011516351.1:p.Val171Met
XM_011518045.3:c.2071G>A	XP_011516347.1:p.Val691Met
XM_011518046.2:c.2137G>A	XP_011516348.1:p.Val713Met
XM_011518047.3:c.2071G>A	XP_011516349.1:p.Val691Met
XM_011518048.2:c.2071G>A	XP_011516350.1:p.Val691Met
XM_011518049.2:c.511G>A	XP_011516351.1:p.Val171Met
XM_017015173.1:c.2071G>A	XP_016870662.1:p.Val691Met
XM_017015174.1:c.2137G>A	XP_016870663.1:p.Val713Met
NM_001190458.2:c.2071G>A	NP_001177387.1:p.Val691Met
NM_001193536.2:c.2071G>A	NP_001180465.1:p.Val691Met
NM_203447.4:c.2275G>A MANE Select	NP_982272.2:p.Val759Met