Canonical Allele Identifier: CA372769754

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 1353553
• ClinVar RCV Id: RCV003597227
• dbSNP Id: rs1157179354
• gnomAD v2: 9-452072-G-A
• gnomAD v3: 9-452072-G-A
• gnomAD v4: 9-452072-G-A
• COSMIC: COSM1109298 ; COSM1109299
• MyVariant Identifiers: chr9:g.452072G>A (hg19) ; chr9:g.452072G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452072G>A , CM000671.2:g.452072G>A	GRCh38
NC_000009.11:g.452072G>A , CM000671.1:g.452072G>A	GRCh37
NC_000009.10:g.442072G>A	NCBI36
NG_017007.1:g.242208G>A , LRG_196:g.242208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5723G>A	ENSP00000371766.2:p.Arg1908Gln
ENST00000683406.1:n.2498G>A
ENST00000684637.1:n.1704G>A
ENST00000685949.1:n.4811G>A
ENST00000432829.7:c.6023G>A MANE Select	ENSP00000394888.3:p.Arg2008Gln
ENST00000382329.1:c.4424G>A	ENSP00000371766.1:p.Arg1475Gln
ENST00000432829.6:c.6023G>A	ENSP00000394888.3:p.Arg2008Gln
ENST00000453981.5:c.5819G>A	ENSP00000408464.2:p.Arg1940Gln
ENST00000469391.5:c.5723G>A	ENSP00000419438.1:p.Arg1908Gln
ENST00000495184.5:n.7978G>A
NM_001190458.1:c.5723G>A	NP_001177387.1:p.Arg1908Gln
NM_001193536.1:c.5819G>A	NP_001180465.1:p.Arg1940Gln
NM_203447.3:c.6023G>A , LRG_196t1:c.6023G>A	NP_982272.2:p.Arg2008Gln
XM_011518045.1:c.5723G>A	XP_011516347.1:p.Arg1908Gln
XM_011518046.1:c.5885G>A	XP_011516348.1:p.Arg1962Gln
XM_011518047.1:c.5819G>A	XP_011516349.1:p.Arg1940Gln
XM_011518048.1:c.5819G>A	XP_011516350.1:p.Arg1940Gln
XM_011518049.1:c.4259G>A	XP_011516351.1:p.Arg1420Gln
XM_011518045.3:c.5723G>A	XP_011516347.1:p.Arg1908Gln
XM_011518046.2:c.5885G>A	XP_011516348.1:p.Arg1962Gln
XM_011518047.3:c.5819G>A	XP_011516349.1:p.Arg1940Gln
XM_011518048.2:c.5819G>A	XP_011516350.1:p.Arg1940Gln
XM_011518049.2:c.4259G>A	XP_011516351.1:p.Arg1420Gln
XM_017015173.1:c.5819G>A	XP_016870662.1:p.Arg1940Gln
XM_017015174.1:c.5885G>A	XP_016870663.1:p.Arg1962Gln
NM_001190458.2:c.5723G>A	NP_001177387.1:p.Arg1908Gln
NM_001193536.2:c.5819G>A	NP_001180465.1:p.Arg1940Gln
NM_203447.4:c.6023G>A MANE Select	NP_982272.2:p.Arg2008Gln