Canonical Allele Identifier: CA372760506

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 930924
• ClinVar RCV Id: RCV001196935
• dbSNP Id: rs2055912945
• MyVariant Identifiers: chr9:g.414846G>A (hg19) ; chr9:g.414846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414846G>A , CM000671.2:g.414846G>A	GRCh38
NC_000009.11:g.414846G>A , CM000671.1:g.414846G>A	GRCh37
NC_000009.10:g.404846G>A	NCBI36
NG_017007.1:g.204982G>A , LRG_196:g.204982G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3295G>A	ENSP00000371766.2:p.Asp1099Asn
ENST00000683406.1:n.116G>A
ENST00000685949.1:n.2383G>A
ENST00000432829.7:c.3595G>A MANE Select	ENSP00000394888.3:p.Asp1199Asn
ENST00000382329.1:c.1996G>A	ENSP00000371766.1:p.Asp666Asn
ENST00000432829.6:c.3595G>A	ENSP00000394888.3:p.Asp1199Asn
ENST00000453981.5:c.3391G>A	ENSP00000408464.2:p.Asp1131Asn
ENST00000469391.5:c.3295G>A	ENSP00000419438.1:p.Asp1099Asn
ENST00000495184.5:n.5550G>A
NM_001190458.1:c.3295G>A	NP_001177387.1:p.Asp1099Asn
NM_001193536.1:c.3391G>A	NP_001180465.1:p.Asp1131Asn
NM_203447.3:c.3595G>A , LRG_196t1:c.3595G>A	NP_982272.2:p.Asp1199Asn
XM_011518045.1:c.3295G>A	XP_011516347.1:p.Asp1099Asn
XM_011518046.1:c.3457G>A	XP_011516348.1:p.Asp1153Asn
XM_011518047.1:c.3391G>A	XP_011516349.1:p.Asp1131Asn
XM_011518048.1:c.3391G>A	XP_011516350.1:p.Asp1131Asn
XM_011518049.1:c.1831G>A	XP_011516351.1:p.Asp611Asn
XM_011518045.3:c.3295G>A	XP_011516347.1:p.Asp1099Asn
XM_011518046.2:c.3457G>A	XP_011516348.1:p.Asp1153Asn
XM_011518047.3:c.3391G>A	XP_011516349.1:p.Asp1131Asn
XM_011518048.2:c.3391G>A	XP_011516350.1:p.Asp1131Asn
XM_011518049.2:c.1831G>A	XP_011516351.1:p.Asp611Asn
XM_017015173.1:c.3391G>A	XP_016870662.1:p.Asp1131Asn
XM_017015174.1:c.3457G>A	XP_016870663.1:p.Asp1153Asn
NM_001190458.2:c.3295G>A	NP_001177387.1:p.Asp1099Asn
NM_001193536.2:c.3391G>A	NP_001180465.1:p.Asp1131Asn
NM_203447.4:c.3595G>A MANE Select	NP_982272.2:p.Asp1199Asn