Canonical Allele Identifier: CA187814646

Gene: DOCK8

Linked Data

• dbSNP Id: rs990462135
• gnomAD v3: 9-377095-T-G
• gnomAD v4: 9-377095-T-G
• MyVariant Identifiers: chr9:g.377095T>G (hg19) ; chr9:g.377095T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377095T>G , CM000671.2:g.377095T>G	GRCh38
NC_000009.11:g.377095T>G , CM000671.1:g.377095T>G	GRCh37
NC_000009.10:g.367095T>G	NCBI36
NG_017007.1:g.167231T>G , LRG_196:g.167231T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2120T>G	ENSP00000371766.2:p.Leu707Arg
ENST00000382331.6:n.821T>G
ENST00000483757.6:c.*1011T>G	ENSP00000417691.2:n.*1011T>G
ENST00000682260.1:n.2220T>G
ENST00000685949.1:n.1112T>G
ENST00000432829.7:c.2324T>G MANE Select	ENSP00000394888.3:p.Leu775Arg
ENST00000382329.1:c.725T>G	ENSP00000371766.1:p.Leu242Arg
ENST00000382331.5:c.230T>G	ENSP00000371768.1:p.Leu77Arg
ENST00000432829.6:c.2324T>G	ENSP00000394888.3:p.Leu775Arg
ENST00000453981.5:c.2120T>G	ENSP00000408464.2:p.Leu707Arg
ENST00000469391.5:c.2120T>G	ENSP00000419438.1:p.Leu707Arg
ENST00000483757.5:c.*1799T>G	ENSP00000417691.1:n.*1799T>G
ENST00000495184.5:n.4279T>G
NM_001190458.1:c.2120T>G	NP_001177387.1:p.Leu707Arg
NM_001193536.1:c.2120T>G	NP_001180465.1:p.Leu707Arg
NM_203447.3:c.2324T>G , LRG_196t1:c.2324T>G	NP_982272.2:p.Leu775Arg
XM_011518045.1:c.2120T>G	XP_011516347.1:p.Leu707Arg
XM_011518046.1:c.2186T>G	XP_011516348.1:p.Leu729Arg
XM_011518047.1:c.2120T>G	XP_011516349.1:p.Leu707Arg
XM_011518048.1:c.2120T>G	XP_011516350.1:p.Leu707Arg
XM_011518049.1:c.560T>G	XP_011516351.1:p.Leu187Arg
XM_011518045.3:c.2120T>G	XP_011516347.1:p.Leu707Arg
XM_011518046.2:c.2186T>G	XP_011516348.1:p.Leu729Arg
XM_011518047.3:c.2120T>G	XP_011516349.1:p.Leu707Arg
XM_011518048.2:c.2120T>G	XP_011516350.1:p.Leu707Arg
XM_011518049.2:c.560T>G	XP_011516351.1:p.Leu187Arg
XM_017015173.1:c.2120T>G	XP_016870662.1:p.Leu707Arg
XM_017015174.1:c.2186T>G	XP_016870663.1:p.Leu729Arg
NM_001190458.2:c.2120T>G	NP_001177387.1:p.Leu707Arg
NM_001193536.2:c.2120T>G	NP_001180465.1:p.Leu707Arg
NM_203447.4:c.2324T>G MANE Select	NP_982272.2:p.Leu775Arg