Canonical Allele Identifier: CA372763359

Gene: DOCK8

Linked Data

• gnomAD v4: 9-377139-C-G
• MyVariant Identifiers: chr9:g.377139C>G (hg19) ; chr9:g.377139C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377139C>G , CM000671.2:g.377139C>G	GRCh38
NC_000009.11:g.377139C>G , CM000671.1:g.377139C>G	GRCh37
NC_000009.10:g.367139C>G	NCBI36
NG_017007.1:g.167275C>G , LRG_196:g.167275C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2164C>G	ENSP00000371766.2:p.Leu722Val
ENST00000382331.6:n.865C>G
ENST00000483757.6:c.*1055C>G	ENSP00000417691.2:n.*1055C>G
ENST00000682260.1:n.2264C>G
ENST00000685949.1:n.1156C>G
ENST00000432829.7:c.2368C>G MANE Select	ENSP00000394888.3:p.Leu790Val
ENST00000382329.1:c.769C>G	ENSP00000371766.1:p.Leu257Val
ENST00000382331.5:c.274C>G	ENSP00000371768.1:p.Leu92Val
ENST00000432829.6:c.2368C>G	ENSP00000394888.3:p.Leu790Val
ENST00000453981.5:c.2164C>G	ENSP00000408464.2:p.Leu722Val
ENST00000469391.5:c.2164C>G	ENSP00000419438.1:p.Leu722Val
ENST00000483757.5:c.*1843C>G	ENSP00000417691.1:n.*1843C>G
ENST00000495184.5:n.4323C>G
NM_001190458.1:c.2164C>G	NP_001177387.1:p.Leu722Val
NM_001193536.1:c.2164C>G	NP_001180465.1:p.Leu722Val
NM_203447.3:c.2368C>G , LRG_196t1:c.2368C>G	NP_982272.2:p.Leu790Val
XM_011518045.1:c.2164C>G	XP_011516347.1:p.Leu722Val
XM_011518046.1:c.2230C>G	XP_011516348.1:p.Leu744Val
XM_011518047.1:c.2164C>G	XP_011516349.1:p.Leu722Val
XM_011518048.1:c.2164C>G	XP_011516350.1:p.Leu722Val
XM_011518049.1:c.604C>G	XP_011516351.1:p.Leu202Val
XM_011518045.3:c.2164C>G	XP_011516347.1:p.Leu722Val
XM_011518046.2:c.2230C>G	XP_011516348.1:p.Leu744Val
XM_011518047.3:c.2164C>G	XP_011516349.1:p.Leu722Val
XM_011518048.2:c.2164C>G	XP_011516350.1:p.Leu722Val
XM_011518049.2:c.604C>G	XP_011516351.1:p.Leu202Val
XM_017015173.1:c.2164C>G	XP_016870662.1:p.Leu722Val
XM_017015174.1:c.2230C>G	XP_016870663.1:p.Leu744Val
NM_001190458.2:c.2164C>G	NP_001177387.1:p.Leu722Val
NM_001193536.2:c.2164C>G	NP_001180465.1:p.Leu722Val
NM_203447.4:c.2368C>G MANE Select	NP_982272.2:p.Leu790Val