Canonical Allele Identifier: CA187777465

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 2103840
• ClinVar RCV Id: RCV003764152
• dbSNP Id: rs973073756
• gnomAD v4: 9-414858-G-A
• MyVariant Identifiers: chr9:g.414858G>A (hg19) ; chr9:g.414858G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414858G>A , CM000671.2:g.414858G>A	GRCh38
NC_000009.11:g.414858G>A , CM000671.1:g.414858G>A	GRCh37
NC_000009.10:g.404858G>A	NCBI36
NG_017007.1:g.204994G>A , LRG_196:g.204994G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3307G>A	ENSP00000371766.2:p.Val1103Ile
ENST00000683406.1:n.128G>A
ENST00000685949.1:n.2395G>A
ENST00000432829.7:c.3607G>A MANE Select	ENSP00000394888.3:p.Val1203Ile
ENST00000382329.1:c.2008G>A	ENSP00000371766.1:p.Val670Ile
ENST00000432829.6:c.3607G>A	ENSP00000394888.3:p.Val1203Ile
ENST00000453981.5:c.3403G>A	ENSP00000408464.2:p.Val1135Ile
ENST00000469391.5:c.3307G>A	ENSP00000419438.1:p.Val1103Ile
ENST00000495184.5:n.5562G>A
NM_001190458.1:c.3307G>A	NP_001177387.1:p.Val1103Ile
NM_001193536.1:c.3403G>A	NP_001180465.1:p.Val1135Ile
NM_203447.3:c.3607G>A , LRG_196t1:c.3607G>A	NP_982272.2:p.Val1203Ile
XM_011518045.1:c.3307G>A	XP_011516347.1:p.Val1103Ile
XM_011518046.1:c.3469G>A	XP_011516348.1:p.Val1157Ile
XM_011518047.1:c.3403G>A	XP_011516349.1:p.Val1135Ile
XM_011518048.1:c.3403G>A	XP_011516350.1:p.Val1135Ile
XM_011518049.1:c.1843G>A	XP_011516351.1:p.Val615Ile
XM_011518045.3:c.3307G>A	XP_011516347.1:p.Val1103Ile
XM_011518046.2:c.3469G>A	XP_011516348.1:p.Val1157Ile
XM_011518047.3:c.3403G>A	XP_011516349.1:p.Val1135Ile
XM_011518048.2:c.3403G>A	XP_011516350.1:p.Val1135Ile
XM_011518049.2:c.1843G>A	XP_011516351.1:p.Val615Ile
XM_017015173.1:c.3403G>A	XP_016870662.1:p.Val1135Ile
XM_017015174.1:c.3469G>A	XP_016870663.1:p.Val1157Ile
NM_001190458.2:c.3307G>A	NP_001177387.1:p.Val1103Ile
NM_001193536.2:c.3403G>A	NP_001180465.1:p.Val1135Ile
NM_203447.4:c.3607G>A MANE Select	NP_982272.2:p.Val1203Ile