Canonical Allele Identifier: CA4958174

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 1390867
• ClinVar RCV Id: RCV001891215
• dbSNP Id: rs531535885
• ExAC: 9:377136 G / A
• gnomAD v2: 9-377136-G-A
• gnomAD v3: 9-377136-G-A
• gnomAD v4: 9-377136-G-A
• COSMIC: COSM2775760 ; COSM2775761
• MyVariant Identifiers: chr9:g.377136G>A (hg19) ; chr9:g.377136G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377136G>A , CM000671.2:g.377136G>A	GRCh38
NC_000009.11:g.377136G>A , CM000671.1:g.377136G>A	GRCh37
NC_000009.10:g.367136G>A	NCBI36
NG_017007.1:g.167272G>A , LRG_196:g.167272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2161G>A	ENSP00000371766.2:p.Val721Met
ENST00000382331.6:n.862G>A
ENST00000483757.6:c.*1052G>A	ENSP00000417691.2:n.*1052G>A
ENST00000682260.1:n.2261G>A
ENST00000685949.1:n.1153G>A
ENST00000432829.7:c.2365G>A MANE Select	ENSP00000394888.3:p.Val789Met
ENST00000382329.1:c.766G>A	ENSP00000371766.1:p.Val256Met
ENST00000382331.5:c.271G>A	ENSP00000371768.1:p.Val91Met
ENST00000432829.6:c.2365G>A	ENSP00000394888.3:p.Val789Met
ENST00000453981.5:c.2161G>A	ENSP00000408464.2:p.Val721Met
ENST00000469391.5:c.2161G>A	ENSP00000419438.1:p.Val721Met
ENST00000483757.5:c.*1840G>A	ENSP00000417691.1:n.*1840G>A
ENST00000495184.5:n.4320G>A
NM_001190458.1:c.2161G>A	NP_001177387.1:p.Val721Met
NM_001193536.1:c.2161G>A	NP_001180465.1:p.Val721Met
NM_203447.3:c.2365G>A , LRG_196t1:c.2365G>A	NP_982272.2:p.Val789Met
XM_011518045.1:c.2161G>A	XP_011516347.1:p.Val721Met
XM_011518046.1:c.2227G>A	XP_011516348.1:p.Val743Met
XM_011518047.1:c.2161G>A	XP_011516349.1:p.Val721Met
XM_011518048.1:c.2161G>A	XP_011516350.1:p.Val721Met
XM_011518049.1:c.601G>A	XP_011516351.1:p.Val201Met
XM_011518045.3:c.2161G>A	XP_011516347.1:p.Val721Met
XM_011518046.2:c.2227G>A	XP_011516348.1:p.Val743Met
XM_011518047.3:c.2161G>A	XP_011516349.1:p.Val721Met
XM_011518048.2:c.2161G>A	XP_011516350.1:p.Val721Met
XM_011518049.2:c.601G>A	XP_011516351.1:p.Val201Met
XM_017015173.1:c.2161G>A	XP_016870662.1:p.Val721Met
XM_017015174.1:c.2227G>A	XP_016870663.1:p.Val743Met
NM_001190458.2:c.2161G>A	NP_001177387.1:p.Val721Met
NM_001193536.2:c.2161G>A	NP_001180465.1:p.Val721Met
NM_203447.4:c.2365G>A MANE Select	NP_982272.2:p.Val789Met