Canonical Allele Identifier: CA4958145

Gene: DOCK8

Linked Data

• dbSNP Id: rs764976726
• ExAC: 9:377002 C / T
• gnomAD v2: 9-377002-C-T
• gnomAD v4: 9-377002-C-T
• MyVariant Identifiers: chr9:g.377002C>T (hg19) ; chr9:g.377002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377002C>T , CM000671.2:g.377002C>T	GRCh38
NC_000009.11:g.377002C>T , CM000671.1:g.377002C>T	GRCh37
NC_000009.10:g.367002C>T	NCBI36
NG_017007.1:g.167138C>T , LRG_196:g.167138C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2027C>T	ENSP00000371766.2:p.Thr676Ile
ENST00000382331.6:n.728C>T
ENST00000483757.6:c.*918C>T	ENSP00000417691.2:n.*918C>T
ENST00000682260.1:n.2127C>T
ENST00000685949.1:n.1019C>T
ENST00000432829.7:c.2231C>T MANE Select	ENSP00000394888.3:p.Thr744Ile
ENST00000382329.1:c.632C>T	ENSP00000371766.1:p.Thr211Ile
ENST00000382331.5:c.137C>T	ENSP00000371768.1:p.Thr46Ile
ENST00000432829.6:c.2231C>T	ENSP00000394888.3:p.Thr744Ile
ENST00000453981.5:c.2027C>T	ENSP00000408464.2:p.Thr676Ile
ENST00000469391.5:c.2027C>T	ENSP00000419438.1:p.Thr676Ile
ENST00000483757.5:c.*1706C>T	ENSP00000417691.1:n.*1706C>T
ENST00000495184.5:n.4186C>T
NM_001190458.1:c.2027C>T	NP_001177387.1:p.Thr676Ile
NM_001193536.1:c.2027C>T	NP_001180465.1:p.Thr676Ile
NM_203447.3:c.2231C>T , LRG_196t1:c.2231C>T	NP_982272.2:p.Thr744Ile
XM_011518045.1:c.2027C>T	XP_011516347.1:p.Thr676Ile
XM_011518046.1:c.2093C>T	XP_011516348.1:p.Thr698Ile
XM_011518047.1:c.2027C>T	XP_011516349.1:p.Thr676Ile
XM_011518048.1:c.2027C>T	XP_011516350.1:p.Thr676Ile
XM_011518049.1:c.467C>T	XP_011516351.1:p.Thr156Ile
XM_011518045.3:c.2027C>T	XP_011516347.1:p.Thr676Ile
XM_011518046.2:c.2093C>T	XP_011516348.1:p.Thr698Ile
XM_011518047.3:c.2027C>T	XP_011516349.1:p.Thr676Ile
XM_011518048.2:c.2027C>T	XP_011516350.1:p.Thr676Ile
XM_011518049.2:c.467C>T	XP_011516351.1:p.Thr156Ile
XM_017015173.1:c.2027C>T	XP_016870662.1:p.Thr676Ile
XM_017015174.1:c.2093C>T	XP_016870663.1:p.Thr698Ile
NM_001190458.2:c.2027C>T	NP_001177387.1:p.Thr676Ile
NM_001193536.2:c.2027C>T	NP_001180465.1:p.Thr676Ile
NM_203447.4:c.2231C>T MANE Select	NP_982272.2:p.Thr744Ile