Canonical Allele Identifier: CA2499219915

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 1089974
• ClinVar RCV Id: RCV003771308
• dbSNP Id: rs766680809
• gnomAD v4: 9-452006-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452006A>G , CM000671.2:g.452006A>G	GRCh38
NC_000009.11:g.452006A>G , CM000671.1:g.452006A>G	GRCh37
NC_000009.10:g.442006A>G	NCBI36
NG_017007.1:g.242142A>G , LRG_196:g.242142A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5662-5A>G	ENSP00000371766.2:n.5662-5A>G
ENST00000683406.1:n.2437-5A>G
ENST00000684637.1:n.1643-5A>G
ENST00000685949.1:n.4750-5A>G
ENST00000432829.7:c.5962-5A>G MANE Select	ENSP00000394888.3:n.5962-5A>G
ENST00000382329.1:c.4363-5A>G	ENSP00000371766.1:n.4363-5A>G
ENST00000432829.6:c.5962-5A>G	ENSP00000394888.3:n.5962-5A>G
ENST00000453981.5:c.5758-5A>G	ENSP00000408464.2:n.5758-5A>G
ENST00000469391.5:c.5662-5A>G	ENSP00000419438.1:n.5662-5A>G
ENST00000495184.5:n.7917-5A>G
NM_001190458.1:c.5662-5A>G	NP_001177387.1:n.5662-5A>G
NM_001193536.1:c.5758-5A>G	NP_001180465.1:n.5758-5A>G
NM_203447.3:c.5962-5A>G , LRG_196t1:c.5962-5A>G	NP_982272.2:n.5962-5A>G
XM_011518045.1:c.5662-5A>G	XP_011516347.1:n.5662-5A>G
XM_011518046.1:c.5824-5A>G	XP_011516348.1:n.5824-5A>G
XM_011518047.1:c.5758-5A>G	XP_011516349.1:n.5758-5A>G
XM_011518048.1:c.5758-5A>G	XP_011516350.1:n.5758-5A>G
XM_011518049.1:c.4198-5A>G	XP_011516351.1:n.4198-5A>G
XM_011518045.3:c.5662-5A>G	XP_011516347.1:n.5662-5A>G
XM_011518046.2:c.5824-5A>G	XP_011516348.1:n.5824-5A>G
XM_011518047.3:c.5758-5A>G	XP_011516349.1:n.5758-5A>G
XM_011518048.2:c.5758-5A>G	XP_011516350.1:n.5758-5A>G
XM_011518049.2:c.4198-5A>G	XP_011516351.1:n.4198-5A>G
XM_017015173.1:c.5758-5A>G	XP_016870662.1:n.5758-5A>G
XM_017015174.1:c.5824-5A>G	XP_016870663.1:n.5824-5A>G
NM_001190458.2:c.5662-5A>G	NP_001177387.1:n.5662-5A>G
NM_001193536.2:c.5758-5A>G	NP_001180465.1:n.5758-5A>G
NM_203447.4:c.5962-5A>G MANE Select	NP_982272.2:n.5962-5A>G