Canonical Allele Identifier: CA463848560

Gene: DOCK8

Linked Data

• dbSNP Id: rs1303398009
• gnomAD v2: 9-377147-G-T
• gnomAD v4: 9-377147-G-T
• MyVariant Identifiers: chr9:g.377147G>T (hg19) ; chr9:g.377147G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377147G>T , CM000671.2:g.377147G>T	GRCh38
NC_000009.11:g.377147G>T , CM000671.1:g.377147G>T	GRCh37
NC_000009.10:g.367147G>T	NCBI36
NG_017007.1:g.167283G>T , LRG_196:g.167283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2172G>T	ENSP00000371766.2:p.Leu724=
ENST00000382331.6:n.873G>T
ENST00000483757.6:c.*1063G>T	ENSP00000417691.2:n.*1063G>T
ENST00000682260.1:n.2272G>T
ENST00000685949.1:n.1164G>T
ENST00000432829.7:c.2376G>T MANE Select	ENSP00000394888.3:p.Leu792=
ENST00000382329.1:c.777G>T	ENSP00000371766.1:p.Leu259=
ENST00000382331.5:c.282G>T	ENSP00000371768.1:p.Leu94=
ENST00000432829.6:c.2376G>T	ENSP00000394888.3:p.Leu792=
ENST00000453981.5:c.2172G>T	ENSP00000408464.2:p.Leu724=
ENST00000469391.5:c.2172G>T	ENSP00000419438.1:p.Leu724=
ENST00000483757.5:c.*1851G>T	ENSP00000417691.1:n.*1851G>T
ENST00000495184.5:n.4331G>T
NM_001190458.1:c.2172G>T	NP_001177387.1:p.Leu724=
NM_001193536.1:c.2172G>T	NP_001180465.1:p.Leu724=
NM_203447.3:c.2376G>T , LRG_196t1:c.2376G>T	NP_982272.2:p.Leu792=
XM_011518045.1:c.2172G>T	XP_011516347.1:p.Leu724=
XM_011518046.1:c.2238G>T	XP_011516348.1:p.Leu746=
XM_011518047.1:c.2172G>T	XP_011516349.1:p.Leu724=
XM_011518048.1:c.2172G>T	XP_011516350.1:p.Leu724=
XM_011518049.1:c.612G>T	XP_011516351.1:p.Leu204=
XM_011518045.3:c.2172G>T	XP_011516347.1:p.Leu724=
XM_011518046.2:c.2238G>T	XP_011516348.1:p.Leu746=
XM_011518047.3:c.2172G>T	XP_011516349.1:p.Leu724=
XM_011518048.2:c.2172G>T	XP_011516350.1:p.Leu724=
XM_011518049.2:c.612G>T	XP_011516351.1:p.Leu204=
XM_017015173.1:c.2172G>T	XP_016870662.1:p.Leu724=
XM_017015174.1:c.2238G>T	XP_016870663.1:p.Leu746=
NM_001190458.2:c.2172G>T	NP_001177387.1:p.Leu724=
NM_001193536.2:c.2172G>T	NP_001180465.1:p.Leu724=
NM_203447.4:c.2376G>T MANE Select	NP_982272.2:p.Leu792=