Canonical Allele Identifier: CA463848579

Gene: DOCK8

Linked Data

• gnomAD v4: 9-377171-C-T
• MyVariant Identifiers: chr9:g.377171C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377171C>T , CM000671.2:g.377171C>T	GRCh38
NC_000009.11:g.377171C>T , CM000671.1:g.377171C>T	GRCh37
NC_000009.10:g.367171C>T	NCBI36
NG_017007.1:g.167307C>T , LRG_196:g.167307C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2196C>T	ENSP00000371766.2:p.Phe732=
ENST00000382331.6:n.897C>T
ENST00000483757.6:c.*1087C>T	ENSP00000417691.2:n.*1087C>T
ENST00000682260.1:n.2296C>T
ENST00000685949.1:n.1188C>T
ENST00000432829.7:c.2400C>T MANE Select	ENSP00000394888.3:p.Phe800=
ENST00000382329.1:c.801C>T	ENSP00000371766.1:p.Phe267=
ENST00000382331.5:c.306C>T	ENSP00000371768.1:p.Phe102=
ENST00000432829.6:c.2400C>T	ENSP00000394888.3:p.Phe800=
ENST00000453981.5:c.2196C>T	ENSP00000408464.2:p.Phe732=
ENST00000469391.5:c.2196C>T	ENSP00000419438.1:p.Phe732=
ENST00000483757.5:c.*1875C>T	ENSP00000417691.1:n.*1875C>T
ENST00000495184.5:n.4355C>T
NM_001190458.1:c.2196C>T	NP_001177387.1:p.Phe732=
NM_001193536.1:c.2196C>T	NP_001180465.1:p.Phe732=
NM_203447.3:c.2400C>T , LRG_196t1:c.2400C>T	NP_982272.2:p.Phe800=
XM_011518045.1:c.2196C>T	XP_011516347.1:p.Phe732=
XM_011518046.1:c.2262C>T	XP_011516348.1:p.Phe754=
XM_011518047.1:c.2196C>T	XP_011516349.1:p.Phe732=
XM_011518048.1:c.2196C>T	XP_011516350.1:p.Phe732=
XM_011518049.1:c.636C>T	XP_011516351.1:p.Phe212=
XM_011518045.3:c.2196C>T	XP_011516347.1:p.Phe732=
XM_011518046.2:c.2262C>T	XP_011516348.1:p.Phe754=
XM_011518047.3:c.2196C>T	XP_011516349.1:p.Phe732=
XM_011518048.2:c.2196C>T	XP_011516350.1:p.Phe732=
XM_011518049.2:c.636C>T	XP_011516351.1:p.Phe212=
XM_017015173.1:c.2196C>T	XP_016870662.1:p.Phe732=
XM_017015174.1:c.2262C>T	XP_016870663.1:p.Phe754=
NM_001190458.2:c.2196C>T	NP_001177387.1:p.Phe732=
NM_001193536.2:c.2196C>T	NP_001180465.1:p.Phe732=
NM_203447.4:c.2400C>T MANE Select	NP_982272.2:p.Phe800=