Canonical Allele Identifier: CA4958758

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 392198
• ClinVar RCV Id: RCV000417513 ; RCV003595988
• dbSNP Id: rs149908718
• ExAC: 9:414854 C / G
• gnomAD v2: 9-414854-C-G
• gnomAD v3: 9-414854-C-G
• gnomAD v4: 9-414854-C-G
• MyVariant Identifiers: chr9:g.414854C>G (hg19) ; chr9:g.414854C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414854C>G , CM000671.2:g.414854C>G	GRCh38
NC_000009.11:g.414854C>G , CM000671.1:g.414854C>G	GRCh37
NC_000009.10:g.404854C>G	NCBI36
NG_017007.1:g.204990C>G , LRG_196:g.204990C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3303C>G	ENSP00000371766.2:p.Arg1101=
ENST00000683406.1:n.124C>G
ENST00000685949.1:n.2391C>G
ENST00000432829.7:c.3603C>G MANE Select	ENSP00000394888.3:p.Arg1201=
ENST00000382329.1:c.2004C>G	ENSP00000371766.1:p.Arg668=
ENST00000432829.6:c.3603C>G	ENSP00000394888.3:p.Arg1201=
ENST00000453981.5:c.3399C>G	ENSP00000408464.2:p.Arg1133=
ENST00000469391.5:c.3303C>G	ENSP00000419438.1:p.Arg1101=
ENST00000495184.5:n.5558C>G
NM_001190458.1:c.3303C>G	NP_001177387.1:p.Arg1101=
NM_001193536.1:c.3399C>G	NP_001180465.1:p.Arg1133=
NM_203447.3:c.3603C>G , LRG_196t1:c.3603C>G	NP_982272.2:p.Arg1201=
XM_011518045.1:c.3303C>G	XP_011516347.1:p.Arg1101=
XM_011518046.1:c.3465C>G	XP_011516348.1:p.Arg1155=
XM_011518047.1:c.3399C>G	XP_011516349.1:p.Arg1133=
XM_011518048.1:c.3399C>G	XP_011516350.1:p.Arg1133=
XM_011518049.1:c.1839C>G	XP_011516351.1:p.Arg613=
XM_011518045.3:c.3303C>G	XP_011516347.1:p.Arg1101=
XM_011518046.2:c.3465C>G	XP_011516348.1:p.Arg1155=
XM_011518047.3:c.3399C>G	XP_011516349.1:p.Arg1133=
XM_011518048.2:c.3399C>G	XP_011516350.1:p.Arg1133=
XM_011518049.2:c.1839C>G	XP_011516351.1:p.Arg613=
XM_017015173.1:c.3399C>G	XP_016870662.1:p.Arg1133=
XM_017015174.1:c.3465C>G	XP_016870663.1:p.Arg1155=
NM_001190458.2:c.3303C>G	NP_001177387.1:p.Arg1101=
NM_001193536.2:c.3399C>G	NP_001180465.1:p.Arg1133=
NM_203447.4:c.3603C>G MANE Select	NP_982272.2:p.Arg1201=