Canonical Allele Identifier: CA4958170

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 382566
• ClinVar RCV Id: RCV000425705
• dbSNP Id: rs562630401
• ExAC: 9:377117 C / T
• gnomAD v2: 9-377117-C-T
• gnomAD v3: 9-377117-C-T
• gnomAD v4: 9-377117-C-T
• MyVariant Identifiers: chr9:g.377117C>T (hg19) ; chr9:g.377117C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377117C>T , CM000671.2:g.377117C>T	GRCh38
NC_000009.11:g.377117C>T , CM000671.1:g.377117C>T	GRCh37
NC_000009.10:g.367117C>T	NCBI36
NG_017007.1:g.167253C>T , LRG_196:g.167253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2142C>T	ENSP00000371766.2:p.Ser714=
ENST00000382331.6:n.843C>T
ENST00000483757.6:c.*1033C>T	ENSP00000417691.2:n.*1033C>T
ENST00000682260.1:n.2242C>T
ENST00000685949.1:n.1134C>T
ENST00000432829.7:c.2346C>T MANE Select	ENSP00000394888.3:p.Ser782=
ENST00000382329.1:c.747C>T	ENSP00000371766.1:p.Ser249=
ENST00000382331.5:c.252C>T	ENSP00000371768.1:p.Ser84=
ENST00000432829.6:c.2346C>T	ENSP00000394888.3:p.Ser782=
ENST00000453981.5:c.2142C>T	ENSP00000408464.2:p.Ser714=
ENST00000469391.5:c.2142C>T	ENSP00000419438.1:p.Ser714=
ENST00000483757.5:c.*1821C>T	ENSP00000417691.1:n.*1821C>T
ENST00000495184.5:n.4301C>T
NM_001190458.1:c.2142C>T	NP_001177387.1:p.Ser714=
NM_001193536.1:c.2142C>T	NP_001180465.1:p.Ser714=
NM_203447.3:c.2346C>T , LRG_196t1:c.2346C>T	NP_982272.2:p.Ser782=
XM_011518045.1:c.2142C>T	XP_011516347.1:p.Ser714=
XM_011518046.1:c.2208C>T	XP_011516348.1:p.Ser736=
XM_011518047.1:c.2142C>T	XP_011516349.1:p.Ser714=
XM_011518048.1:c.2142C>T	XP_011516350.1:p.Ser714=
XM_011518049.1:c.582C>T	XP_011516351.1:p.Ser194=
XM_011518045.3:c.2142C>T	XP_011516347.1:p.Ser714=
XM_011518046.2:c.2208C>T	XP_011516348.1:p.Ser736=
XM_011518047.3:c.2142C>T	XP_011516349.1:p.Ser714=
XM_011518048.2:c.2142C>T	XP_011516350.1:p.Ser714=
XM_011518049.2:c.582C>T	XP_011516351.1:p.Ser194=
XM_017015173.1:c.2142C>T	XP_016870662.1:p.Ser714=
XM_017015174.1:c.2208C>T	XP_016870663.1:p.Ser736=
NM_001190458.2:c.2142C>T	NP_001177387.1:p.Ser714=
NM_001193536.2:c.2142C>T	NP_001180465.1:p.Ser714=
NM_203447.4:c.2346C>T MANE Select	NP_982272.2:p.Ser782=