Canonical Allele Identifier: CA463691063

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 1422786
• ClinVar RCV Id: RCV003772842
• dbSNP Id: rs758993681
• gnomAD v2: 9-414863-A-G
• gnomAD v4: 9-414863-A-G
• MyVariant Identifiers: chr9:g.414863A>G (hg19) ; chr9:g.414863A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414863A>G , CM000671.2:g.414863A>G	GRCh38
NC_000009.11:g.414863A>G , CM000671.1:g.414863A>G	GRCh37
NC_000009.10:g.404863A>G	NCBI36
NG_017007.1:g.204999A>G , LRG_196:g.204999A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3312A>G	ENSP00000371766.2:p.Lys1104=
ENST00000683406.1:n.133A>G
ENST00000685949.1:n.2400A>G
ENST00000432829.7:c.3612A>G MANE Select	ENSP00000394888.3:p.Lys1204=
ENST00000382329.1:c.2013A>G	ENSP00000371766.1:p.Lys671=
ENST00000432829.6:c.3612A>G	ENSP00000394888.3:p.Lys1204=
ENST00000453981.5:c.3408A>G	ENSP00000408464.2:p.Lys1136=
ENST00000469391.5:c.3312A>G	ENSP00000419438.1:p.Lys1104=
ENST00000495184.5:n.5567A>G
NM_001190458.1:c.3312A>G	NP_001177387.1:p.Lys1104=
NM_001193536.1:c.3408A>G	NP_001180465.1:p.Lys1136=
NM_203447.3:c.3612A>G , LRG_196t1:c.3612A>G	NP_982272.2:p.Lys1204=
XM_011518045.1:c.3312A>G	XP_011516347.1:p.Lys1104=
XM_011518046.1:c.3474A>G	XP_011516348.1:p.Lys1158=
XM_011518047.1:c.3408A>G	XP_011516349.1:p.Lys1136=
XM_011518048.1:c.3408A>G	XP_011516350.1:p.Lys1136=
XM_011518049.1:c.1848A>G	XP_011516351.1:p.Lys616=
XM_011518045.3:c.3312A>G	XP_011516347.1:p.Lys1104=
XM_011518046.2:c.3474A>G	XP_011516348.1:p.Lys1158=
XM_011518047.3:c.3408A>G	XP_011516349.1:p.Lys1136=
XM_011518048.2:c.3408A>G	XP_011516350.1:p.Lys1136=
XM_011518049.2:c.1848A>G	XP_011516351.1:p.Lys616=
XM_017015173.1:c.3408A>G	XP_016870662.1:p.Lys1136=
XM_017015174.1:c.3474A>G	XP_016870663.1:p.Lys1158=
NM_001190458.2:c.3312A>G	NP_001177387.1:p.Lys1104=
NM_001193536.2:c.3408A>G	NP_001180465.1:p.Lys1136=
NM_203447.4:c.3612A>G MANE Select	NP_982272.2:p.Lys1204=