Canonical Allele Identifier: CA4959389

Gene: DOCK8

Linked Data

• dbSNP Id: rs369902285
• ExAC: 9:441370 C / G
• gnomAD v2: 9-441370-C-G
• gnomAD v4: 9-441370-C-G
• MyVariant Identifiers: chr9:g.441370C>G (hg19) ; chr9:g.441370C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.441370C>G , CM000671.2:g.441370C>G	GRCh38
NC_000009.11:g.441370C>G , CM000671.1:g.441370C>G	GRCh37
NC_000009.10:g.431370C>G	NCBI36
NG_017007.1:g.231506C>G , LRG_196:g.231506C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.5008C>G	ENSP00000371766.2:p.Leu1670Val
ENST00000683406.1:n.1783C>G
ENST00000684637.1:n.989C>G
ENST00000685949.1:n.4096C>G
ENST00000432829.7:c.5308C>G MANE Select	ENSP00000394888.3:p.Leu1770Val
ENST00000382329.1:c.3709C>G	ENSP00000371766.1:p.Leu1237Val
ENST00000432829.6:c.5308C>G	ENSP00000394888.3:p.Leu1770Val
ENST00000453981.5:c.5104C>G	ENSP00000408464.2:p.Leu1702Val
ENST00000469391.5:c.5008C>G	ENSP00000419438.1:p.Leu1670Val
ENST00000495184.5:n.7263C>G
NM_001190458.1:c.5008C>G	NP_001177387.1:p.Leu1670Val
NM_001193536.1:c.5104C>G	NP_001180465.1:p.Leu1702Val
NM_203447.3:c.5308C>G , LRG_196t1:c.5308C>G	NP_982272.2:p.Leu1770Val
XM_011518045.1:c.5008C>G	XP_011516347.1:p.Leu1670Val
XM_011518046.1:c.5170C>G	XP_011516348.1:p.Leu1724Val
XM_011518047.1:c.5104C>G	XP_011516349.1:p.Leu1702Val
XM_011518048.1:c.5104C>G	XP_011516350.1:p.Leu1702Val
XM_011518049.1:c.3544C>G	XP_011516351.1:p.Leu1182Val
XM_011518045.3:c.5008C>G	XP_011516347.1:p.Leu1670Val
XM_011518046.2:c.5170C>G	XP_011516348.1:p.Leu1724Val
XM_011518047.3:c.5104C>G	XP_011516349.1:p.Leu1702Val
XM_011518048.2:c.5104C>G	XP_011516350.1:p.Leu1702Val
XM_011518049.2:c.3544C>G	XP_011516351.1:p.Leu1182Val
XM_017015173.1:c.5104C>G	XP_016870662.1:p.Leu1702Val
XM_017015174.1:c.5170C>G	XP_016870663.1:p.Leu1724Val
NM_001190458.2:c.5008C>G	NP_001177387.1:p.Leu1670Val
NM_001193536.2:c.5104C>G	NP_001180465.1:p.Leu1702Val
NM_203447.4:c.5308C>G MANE Select	NP_982272.2:p.Leu1770Val