Canonical Allele Identifier: CA4958884

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 377799
• ClinVar RCV Id: RCV000439452 ; RCV001087724 ; RCV001251750 ; RCV003595959 ; RCV003912613
• dbSNP Id: rs148081681
• ExAC: 9:420548 C / G
• gnomAD v2: 9-420548-C-G
• gnomAD v3: 9-420548-C-G
• gnomAD v4: 9-420548-C-G
• MyVariant Identifiers: chr9:g.420548C>G (hg19) ; chr9:g.420548C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.420548C>G , CM000671.2:g.420548C>G	GRCh38
NC_000009.11:g.420548C>G , CM000671.1:g.420548C>G	GRCh37
NC_000009.10:g.410548C>G	NCBI36
NG_017007.1:g.210684C>G , LRG_196:g.210684C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3688C>G	ENSP00000371766.2:p.Leu1230Val
ENST00000683406.1:n.509C>G
ENST00000685949.1:n.2776C>G
ENST00000432829.7:c.3988C>G MANE Select	ENSP00000394888.3:p.Leu1330Val
ENST00000382329.1:c.2389C>G	ENSP00000371766.1:p.Leu797Val
ENST00000432829.6:c.3988C>G	ENSP00000394888.3:p.Leu1330Val
ENST00000453981.5:c.3784C>G	ENSP00000408464.2:p.Leu1262Val
ENST00000469391.5:c.3688C>G	ENSP00000419438.1:p.Leu1230Val
ENST00000493666.2:n.213C>G
ENST00000495184.5:n.5943C>G
NM_001190458.1:c.3688C>G	NP_001177387.1:p.Leu1230Val
NM_001193536.1:c.3784C>G	NP_001180465.1:p.Leu1262Val
NM_203447.3:c.3988C>G , LRG_196t1:c.3988C>G	NP_982272.2:p.Leu1330Val
XM_011518045.1:c.3688C>G	XP_011516347.1:p.Leu1230Val
XM_011518046.1:c.3850C>G	XP_011516348.1:p.Leu1284Val
XM_011518047.1:c.3784C>G	XP_011516349.1:p.Leu1262Val
XM_011518048.1:c.3784C>G	XP_011516350.1:p.Leu1262Val
XM_011518049.1:c.2224C>G	XP_011516351.1:p.Leu742Val
XM_011518045.3:c.3688C>G	XP_011516347.1:p.Leu1230Val
XM_011518046.2:c.3850C>G	XP_011516348.1:p.Leu1284Val
XM_011518047.3:c.3784C>G	XP_011516349.1:p.Leu1262Val
XM_011518048.2:c.3784C>G	XP_011516350.1:p.Leu1262Val
XM_011518049.2:c.2224C>G	XP_011516351.1:p.Leu742Val
XM_017015173.1:c.3784C>G	XP_016870662.1:p.Leu1262Val
XM_017015174.1:c.3850C>G	XP_016870663.1:p.Leu1284Val
NM_001190458.2:c.3688C>G	NP_001177387.1:p.Leu1230Val
NM_001193536.2:c.3784C>G	NP_001180465.1:p.Leu1262Val
NM_203447.4:c.3988C>G MANE Select	NP_982272.2:p.Leu1330Val