Canonical Allele Identifier: CA4958751

Gene: DOCK8

Linked Data

• dbSNP Id: rs775333595
• ExAC: 9:414832 G / C
• gnomAD v2: 9-414832-G-C
• gnomAD v3: 9-414832-G-C
• gnomAD v4: 9-414832-G-C
• MyVariant Identifiers: chr9:g.414832G>C (hg19) ; chr9:g.414832G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414832G>C , CM000671.2:g.414832G>C	GRCh38
NC_000009.11:g.414832G>C , CM000671.1:g.414832G>C	GRCh37
NC_000009.10:g.404832G>C	NCBI36
NG_017007.1:g.204968G>C , LRG_196:g.204968G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3281G>C	ENSP00000371766.2:p.Ser1094Thr
ENST00000683406.1:n.102G>C
ENST00000685949.1:n.2369G>C
ENST00000432829.7:c.3581G>C MANE Select	ENSP00000394888.3:p.Ser1194Thr
ENST00000382329.1:c.1982G>C	ENSP00000371766.1:p.Ser661Thr
ENST00000432829.6:c.3581G>C	ENSP00000394888.3:p.Ser1194Thr
ENST00000453981.5:c.3377G>C	ENSP00000408464.2:p.Ser1126Thr
ENST00000469391.5:c.3281G>C	ENSP00000419438.1:p.Ser1094Thr
ENST00000495184.5:n.5536G>C
NM_001190458.1:c.3281G>C	NP_001177387.1:p.Ser1094Thr
NM_001193536.1:c.3377G>C	NP_001180465.1:p.Ser1126Thr
NM_203447.3:c.3581G>C , LRG_196t1:c.3581G>C	NP_982272.2:p.Ser1194Thr
XM_011518045.1:c.3281G>C	XP_011516347.1:p.Ser1094Thr
XM_011518046.1:c.3443G>C	XP_011516348.1:p.Ser1148Thr
XM_011518047.1:c.3377G>C	XP_011516349.1:p.Ser1126Thr
XM_011518048.1:c.3377G>C	XP_011516350.1:p.Ser1126Thr
XM_011518049.1:c.1817G>C	XP_011516351.1:p.Ser606Thr
XM_011518045.3:c.3281G>C	XP_011516347.1:p.Ser1094Thr
XM_011518046.2:c.3443G>C	XP_011516348.1:p.Ser1148Thr
XM_011518047.3:c.3377G>C	XP_011516349.1:p.Ser1126Thr
XM_011518048.2:c.3377G>C	XP_011516350.1:p.Ser1126Thr
XM_011518049.2:c.1817G>C	XP_011516351.1:p.Ser606Thr
XM_017015173.1:c.3377G>C	XP_016870662.1:p.Ser1126Thr
XM_017015174.1:c.3443G>C	XP_016870663.1:p.Ser1148Thr
NM_001190458.2:c.3281G>C	NP_001177387.1:p.Ser1094Thr
NM_001193536.2:c.3377G>C	NP_001180465.1:p.Ser1126Thr
NM_203447.4:c.3581G>C MANE Select	NP_982272.2:p.Ser1194Thr