Canonical Allele Identifier: CA372753237

Gene: DOCK8

Linked Data

• COSMIC: COSM5042696 ; COSM5042697
• MyVariant Identifiers: chr9:g.336617C>T (hg19) ; chr9:g.336617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.336617C>T , CM000671.2:g.336617C>T	GRCh38
NC_000009.11:g.336617C>T , CM000671.1:g.336617C>T	GRCh37
NC_000009.10:g.326617C>T	NCBI36
NG_017007.1:g.126753C>T , LRG_196:g.126753C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.1117C>T	ENSP00000371766.2:p.Gln373Ter
ENST00000483757.6:c.1117C>T	ENSP00000417691.2:p.Gln373Ter
ENST00000432829.7:c.1321C>T MANE Select	ENSP00000394888.3:p.Gln441Ter
ENST00000382341.5:n.1216C>T
ENST00000432829.6:c.1321C>T	ENSP00000394888.3:p.Gln441Ter
ENST00000453981.5:c.1117C>T	ENSP00000408464.2:p.Gln373Ter
ENST00000454469.6:n.1430C>T
ENST00000469391.5:c.1117C>T	ENSP00000419438.1:p.Gln373Ter
ENST00000483757.5:c.1117C>T	ENSP00000417691.1:p.Gln373Ter
ENST00000495184.5:n.1182C>T
ENST00000524396.5:c.*1284C>T	ENSP00000436628.1:n.*1284C>T
NM_001190458.1:c.1117C>T	NP_001177387.1:p.Gln373Ter
NM_001193536.1:c.1117C>T	NP_001180465.1:p.Gln373Ter
NM_203447.3:c.1321C>T , LRG_196t1:c.1321C>T	NP_982272.2:p.Gln441Ter
XM_011518045.1:c.1117C>T	XP_011516347.1:p.Gln373Ter
XM_011518046.1:c.1183C>T	XP_011516348.1:p.Gln395Ter
XM_011518047.1:c.1117C>T	XP_011516349.1:p.Gln373Ter
XM_011518048.1:c.1117C>T	XP_011516350.1:p.Gln373Ter
XM_011518045.3:c.1117C>T	XP_011516347.1:p.Gln373Ter
XM_011518046.2:c.1183C>T	XP_011516348.1:p.Gln395Ter
XM_011518047.3:c.1117C>T	XP_011516349.1:p.Gln373Ter
XM_011518048.2:c.1117C>T	XP_011516350.1:p.Gln373Ter
XM_017015173.1:c.1117C>T	XP_016870662.1:p.Gln373Ter
XM_017015174.1:c.1183C>T	XP_016870663.1:p.Gln395Ter
NM_001190458.2:c.1117C>T	NP_001177387.1:p.Gln373Ter
NM_001193536.2:c.1117C>T	NP_001180465.1:p.Gln373Ter
NM_203447.4:c.1321C>T MANE Select	NP_982272.2:p.Gln441Ter