Canonical Allele Identifier: CA463848512

Gene: DOCK8

Linked Data

• gnomAD v4: 9-377111-G-T
• MyVariant Identifiers: chr9:g.377111G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377111G>T , CM000671.2:g.377111G>T	GRCh38
NC_000009.11:g.377111G>T , CM000671.1:g.377111G>T	GRCh37
NC_000009.10:g.367111G>T	NCBI36
NG_017007.1:g.167247G>T , LRG_196:g.167247G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2136G>T	ENSP00000371766.2:p.Leu712=
ENST00000382331.6:n.837G>T
ENST00000483757.6:c.*1027G>T	ENSP00000417691.2:n.*1027G>T
ENST00000682260.1:n.2236G>T
ENST00000685949.1:n.1128G>T
ENST00000432829.7:c.2340G>T MANE Select	ENSP00000394888.3:p.Leu780=
ENST00000382329.1:c.741G>T	ENSP00000371766.1:p.Leu247=
ENST00000382331.5:c.246G>T	ENSP00000371768.1:p.Leu82=
ENST00000432829.6:c.2340G>T	ENSP00000394888.3:p.Leu780=
ENST00000453981.5:c.2136G>T	ENSP00000408464.2:p.Leu712=
ENST00000469391.5:c.2136G>T	ENSP00000419438.1:p.Leu712=
ENST00000483757.5:c.*1815G>T	ENSP00000417691.1:n.*1815G>T
ENST00000495184.5:n.4295G>T
NM_001190458.1:c.2136G>T	NP_001177387.1:p.Leu712=
NM_001193536.1:c.2136G>T	NP_001180465.1:p.Leu712=
NM_203447.3:c.2340G>T , LRG_196t1:c.2340G>T	NP_982272.2:p.Leu780=
XM_011518045.1:c.2136G>T	XP_011516347.1:p.Leu712=
XM_011518046.1:c.2202G>T	XP_011516348.1:p.Leu734=
XM_011518047.1:c.2136G>T	XP_011516349.1:p.Leu712=
XM_011518048.1:c.2136G>T	XP_011516350.1:p.Leu712=
XM_011518049.1:c.576G>T	XP_011516351.1:p.Leu192=
XM_011518045.3:c.2136G>T	XP_011516347.1:p.Leu712=
XM_011518046.2:c.2202G>T	XP_011516348.1:p.Leu734=
XM_011518047.3:c.2136G>T	XP_011516349.1:p.Leu712=
XM_011518048.2:c.2136G>T	XP_011516350.1:p.Leu712=
XM_011518049.2:c.576G>T	XP_011516351.1:p.Leu192=
XM_017015173.1:c.2136G>T	XP_016870662.1:p.Leu712=
XM_017015174.1:c.2202G>T	XP_016870663.1:p.Leu734=
NM_001190458.2:c.2136G>T	NP_001177387.1:p.Leu712=
NM_001193536.2:c.2136G>T	NP_001180465.1:p.Leu712=
NM_203447.4:c.2340G>T MANE Select	NP_982272.2:p.Leu780=