Canonical Allele Identifier: CA372764572

Gene: DOCK8

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.422056C>T , CM000671.2:g.422056C>T	GRCh38
NC_000009.11:g.422056C>T , CM000671.1:g.422056C>T	GRCh37
NC_000009.10:g.412056C>T	NCBI36
NG_017007.1:g.212192C>T , LRG_196:g.212192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3862C>T	ENSP00000371766.2:p.Arg1288Ter
ENST00000683406.1:n.683C>T
ENST00000685949.1:n.2950C>T
ENST00000432829.7:c.4162C>T MANE Select	ENSP00000394888.3:p.Arg1388Ter
ENST00000382329.1:c.2563C>T	ENSP00000371766.1:p.Arg855Ter
ENST00000432829.6:c.4162C>T	ENSP00000394888.3:p.Arg1388Ter
ENST00000453981.5:c.3958C>T	ENSP00000408464.2:p.Arg1320Ter
ENST00000469391.5:c.3862C>T	ENSP00000419438.1:p.Arg1288Ter
ENST00000493666.2:n.387C>T
ENST00000495184.5:n.6117C>T
NM_001190458.1:c.3862C>T	NP_001177387.1:p.Arg1288Ter
NM_001193536.1:c.3958C>T	NP_001180465.1:p.Arg1320Ter
NM_203447.3:c.4162C>T , LRG_196t1:c.4162C>T	NP_982272.2:p.Arg1388Ter
XM_011518045.1:c.3862C>T	XP_011516347.1:p.Arg1288Ter
XM_011518046.1:c.4024C>T	XP_011516348.1:p.Arg1342Ter
XM_011518047.1:c.3958C>T	XP_011516349.1:p.Arg1320Ter
XM_011518048.1:c.3958C>T	XP_011516350.1:p.Arg1320Ter
XM_011518049.1:c.2398C>T	XP_011516351.1:p.Arg800Ter
XM_011518045.3:c.3862C>T	XP_011516347.1:p.Arg1288Ter
XM_011518046.2:c.4024C>T	XP_011516348.1:p.Arg1342Ter
XM_011518047.3:c.3958C>T	XP_011516349.1:p.Arg1320Ter
XM_011518048.2:c.3958C>T	XP_011516350.1:p.Arg1320Ter
XM_011518049.2:c.2398C>T	XP_011516351.1:p.Arg800Ter
XM_017015173.1:c.3958C>T	XP_016870662.1:p.Arg1320Ter
XM_017015174.1:c.4024C>T	XP_016870663.1:p.Arg1342Ter
NM_001190458.2:c.3862C>T	NP_001177387.1:p.Arg1288Ter
NM_001193536.2:c.3958C>T	NP_001180465.1:p.Arg1320Ter
NM_203447.4:c.4162C>T MANE Select	NP_982272.2:p.Arg1388Ter