Canonical Allele Identifier: CA4958830

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 366995
• ClinVar RCV Id: RCV000432239 ; RCV000541157
• dbSNP Id: rs75411647
• ExAC: 9:418180 A / G
• gnomAD v2: 9-418180-A-G
• gnomAD v3: 9-418180-A-G
• gnomAD v4: 9-418180-A-G
• MyVariant Identifiers: chr9:g.418180A>G (hg19) ; chr9:g.418180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.418180A>G , CM000671.2:g.418180A>G	GRCh38
NC_000009.11:g.418180A>G , CM000671.1:g.418180A>G	GRCh37
NC_000009.10:g.408180A>G	NCBI36
NG_017007.1:g.208316A>G , LRG_196:g.208316A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.3513A>G	ENSP00000371766.2:p.Lys1171=
ENST00000683406.1:n.334A>G
ENST00000685949.1:n.2601A>G
ENST00000432829.7:c.3813A>G MANE Select	ENSP00000394888.3:p.Lys1271=
ENST00000382329.1:c.2214A>G	ENSP00000371766.1:p.Lys738=
ENST00000432829.6:c.3813A>G	ENSP00000394888.3:p.Lys1271=
ENST00000453981.5:c.3609A>G	ENSP00000408464.2:p.Lys1203=
ENST00000469391.5:c.3513A>G	ENSP00000419438.1:p.Lys1171=
ENST00000495184.5:n.5768A>G
NM_001190458.1:c.3513A>G	NP_001177387.1:p.Lys1171=
NM_001193536.1:c.3609A>G	NP_001180465.1:p.Lys1203=
NM_203447.3:c.3813A>G , LRG_196t1:c.3813A>G	NP_982272.2:p.Lys1271=
XM_011518045.1:c.3513A>G	XP_011516347.1:p.Lys1171=
XM_011518046.1:c.3675A>G	XP_011516348.1:p.Lys1225=
XM_011518047.1:c.3609A>G	XP_011516349.1:p.Lys1203=
XM_011518048.1:c.3609A>G	XP_011516350.1:p.Lys1203=
XM_011518049.1:c.2049A>G	XP_011516351.1:p.Lys683=
XM_011518045.3:c.3513A>G	XP_011516347.1:p.Lys1171=
XM_011518046.2:c.3675A>G	XP_011516348.1:p.Lys1225=
XM_011518047.3:c.3609A>G	XP_011516349.1:p.Lys1203=
XM_011518048.2:c.3609A>G	XP_011516350.1:p.Lys1203=
XM_011518049.2:c.2049A>G	XP_011516351.1:p.Lys683=
XM_017015173.1:c.3609A>G	XP_016870662.1:p.Lys1203=
XM_017015174.1:c.3675A>G	XP_016870663.1:p.Lys1225=
NM_001190458.2:c.3513A>G	NP_001177387.1:p.Lys1171=
NM_001193536.2:c.3609A>G	NP_001180465.1:p.Lys1203=
NM_203447.4:c.3813A>G MANE Select	NP_982272.2:p.Lys1271=