Canonical Allele Identifier: CA4957695

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 1489590
• ClinVar RCV Id: RCV003597274
• dbSNP Id: rs745498345
• ExAC: 9:336621 C / G
• gnomAD v2: 9-336621-C-G
• gnomAD v4: 9-336621-C-G
• MyVariant Identifiers: chr9:g.336621C>G (hg19) ; chr9:g.336621C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.336621C>G , CM000671.2:g.336621C>G	GRCh38
NC_000009.11:g.336621C>G , CM000671.1:g.336621C>G	GRCh37
NC_000009.10:g.326621C>G	NCBI36
NG_017007.1:g.126757C>G , LRG_196:g.126757C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.1121C>G	ENSP00000371766.2:p.Ser374Cys
ENST00000483757.6:c.1121C>G	ENSP00000417691.2:p.Ser374Cys
ENST00000432829.7:c.1325C>G MANE Select	ENSP00000394888.3:p.Ser442Cys
ENST00000382341.5:n.1220C>G
ENST00000432829.6:c.1325C>G	ENSP00000394888.3:p.Ser442Cys
ENST00000453981.5:c.1121C>G	ENSP00000408464.2:p.Ser374Cys
ENST00000454469.6:n.1434C>G
ENST00000469391.5:c.1121C>G	ENSP00000419438.1:p.Ser374Cys
ENST00000483757.5:c.1121C>G	ENSP00000417691.1:p.Ser374Cys
ENST00000495184.5:n.1186C>G
ENST00000524396.5:c.*1288C>G	ENSP00000436628.1:n.*1288C>G
NM_001190458.1:c.1121C>G	NP_001177387.1:p.Ser374Cys
NM_001193536.1:c.1121C>G	NP_001180465.1:p.Ser374Cys
NM_203447.3:c.1325C>G , LRG_196t1:c.1325C>G	NP_982272.2:p.Ser442Cys
XM_011518045.1:c.1121C>G	XP_011516347.1:p.Ser374Cys
XM_011518046.1:c.1187C>G	XP_011516348.1:p.Ser396Cys
XM_011518047.1:c.1121C>G	XP_011516349.1:p.Ser374Cys
XM_011518048.1:c.1121C>G	XP_011516350.1:p.Ser374Cys
XM_011518045.3:c.1121C>G	XP_011516347.1:p.Ser374Cys
XM_011518046.2:c.1187C>G	XP_011516348.1:p.Ser396Cys
XM_011518047.3:c.1121C>G	XP_011516349.1:p.Ser374Cys
XM_011518048.2:c.1121C>G	XP_011516350.1:p.Ser374Cys
XM_017015173.1:c.1121C>G	XP_016870662.1:p.Ser374Cys
XM_017015174.1:c.1187C>G	XP_016870663.1:p.Ser396Cys
NM_001190458.2:c.1121C>G	NP_001177387.1:p.Ser374Cys
NM_001193536.2:c.1121C>G	NP_001180465.1:p.Ser374Cys
NM_203447.4:c.1325C>G MANE Select	NP_982272.2:p.Ser442Cys