Canonical Allele Identifier: CA372763365

Gene: DOCK8

Linked Data

• gnomAD v4: 9-377142-T-G
• MyVariant Identifiers: chr9:g.377142T>G (hg19) ; chr9:g.377142T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377142T>G , CM000671.2:g.377142T>G	GRCh38
NC_000009.11:g.377142T>G , CM000671.1:g.377142T>G	GRCh37
NC_000009.10:g.367142T>G	NCBI36
NG_017007.1:g.167278T>G , LRG_196:g.167278T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2167T>G	ENSP00000371766.2:p.Phe723Val
ENST00000382331.6:n.868T>G
ENST00000483757.6:c.*1058T>G	ENSP00000417691.2:n.*1058T>G
ENST00000682260.1:n.2267T>G
ENST00000685949.1:n.1159T>G
ENST00000432829.7:c.2371T>G MANE Select	ENSP00000394888.3:p.Phe791Val
ENST00000382329.1:c.772T>G	ENSP00000371766.1:p.Phe258Val
ENST00000382331.5:c.277T>G	ENSP00000371768.1:p.Phe93Val
ENST00000432829.6:c.2371T>G	ENSP00000394888.3:p.Phe791Val
ENST00000453981.5:c.2167T>G	ENSP00000408464.2:p.Phe723Val
ENST00000469391.5:c.2167T>G	ENSP00000419438.1:p.Phe723Val
ENST00000483757.5:c.*1846T>G	ENSP00000417691.1:n.*1846T>G
ENST00000495184.5:n.4326T>G
NM_001190458.1:c.2167T>G	NP_001177387.1:p.Phe723Val
NM_001193536.1:c.2167T>G	NP_001180465.1:p.Phe723Val
NM_203447.3:c.2371T>G , LRG_196t1:c.2371T>G	NP_982272.2:p.Phe791Val
XM_011518045.1:c.2167T>G	XP_011516347.1:p.Phe723Val
XM_011518046.1:c.2233T>G	XP_011516348.1:p.Phe745Val
XM_011518047.1:c.2167T>G	XP_011516349.1:p.Phe723Val
XM_011518048.1:c.2167T>G	XP_011516350.1:p.Phe723Val
XM_011518049.1:c.607T>G	XP_011516351.1:p.Phe203Val
XM_011518045.3:c.2167T>G	XP_011516347.1:p.Phe723Val
XM_011518046.2:c.2233T>G	XP_011516348.1:p.Phe745Val
XM_011518047.3:c.2167T>G	XP_011516349.1:p.Phe723Val
XM_011518048.2:c.2167T>G	XP_011516350.1:p.Phe723Val
XM_011518049.2:c.607T>G	XP_011516351.1:p.Phe203Val
XM_017015173.1:c.2167T>G	XP_016870662.1:p.Phe723Val
XM_017015174.1:c.2233T>G	XP_016870663.1:p.Phe745Val
NM_001190458.2:c.2167T>G	NP_001177387.1:p.Phe723Val
NM_001193536.2:c.2167T>G	NP_001180465.1:p.Phe723Val
NM_203447.4:c.2371T>G MANE Select	NP_982272.2:p.Phe791Val