Canonical Allele Identifier: CA187814778

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 1901176
• ClinVar RCV Id: RCV003776570
• dbSNP Id: rs971762484
• gnomAD v4: 9-377145-C-T
• MyVariant Identifiers: chr9:g.377145C>T (hg19) ; chr9:g.377145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377145C>T , CM000671.2:g.377145C>T	GRCh38
NC_000009.11:g.377145C>T , CM000671.1:g.377145C>T	GRCh37
NC_000009.10:g.367145C>T	NCBI36
NG_017007.1:g.167281C>T , LRG_196:g.167281C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2170C>T	ENSP00000371766.2:p.Leu724=
ENST00000382331.6:n.871C>T
ENST00000483757.6:c.*1061C>T	ENSP00000417691.2:n.*1061C>T
ENST00000682260.1:n.2270C>T
ENST00000685949.1:n.1162C>T
ENST00000432829.7:c.2374C>T MANE Select	ENSP00000394888.3:p.Leu792=
ENST00000382329.1:c.775C>T	ENSP00000371766.1:p.Leu259=
ENST00000382331.5:c.280C>T	ENSP00000371768.1:p.Leu94=
ENST00000432829.6:c.2374C>T	ENSP00000394888.3:p.Leu792=
ENST00000453981.5:c.2170C>T	ENSP00000408464.2:p.Leu724=
ENST00000469391.5:c.2170C>T	ENSP00000419438.1:p.Leu724=
ENST00000483757.5:c.*1849C>T	ENSP00000417691.1:n.*1849C>T
ENST00000495184.5:n.4329C>T
NM_001190458.1:c.2170C>T	NP_001177387.1:p.Leu724=
NM_001193536.1:c.2170C>T	NP_001180465.1:p.Leu724=
NM_203447.3:c.2374C>T , LRG_196t1:c.2374C>T	NP_982272.2:p.Leu792=
XM_011518045.1:c.2170C>T	XP_011516347.1:p.Leu724=
XM_011518046.1:c.2236C>T	XP_011516348.1:p.Leu746=
XM_011518047.1:c.2170C>T	XP_011516349.1:p.Leu724=
XM_011518048.1:c.2170C>T	XP_011516350.1:p.Leu724=
XM_011518049.1:c.610C>T	XP_011516351.1:p.Leu204=
XM_011518045.3:c.2170C>T	XP_011516347.1:p.Leu724=
XM_011518046.2:c.2236C>T	XP_011516348.1:p.Leu746=
XM_011518047.3:c.2170C>T	XP_011516349.1:p.Leu724=
XM_011518048.2:c.2170C>T	XP_011516350.1:p.Leu724=
XM_011518049.2:c.610C>T	XP_011516351.1:p.Leu204=
XM_017015173.1:c.2170C>T	XP_016870662.1:p.Leu724=
XM_017015174.1:c.2236C>T	XP_016870663.1:p.Leu746=
NM_001190458.2:c.2170C>T	NP_001177387.1:p.Leu724=
NM_001193536.2:c.2170C>T	NP_001180465.1:p.Leu724=
NM_203447.4:c.2374C>T MANE Select	NP_982272.2:p.Leu792=