Canonical Allele Identifier: CA885702

Gene: DOCK7

Linked Data

• ClinVar Variation Id: 475148
• ClinVar RCV Id: RCV000540286 ; RCV002526710
• dbSNP Id: rs770382237
• ExAC: 1:62973694 T / C
• gnomAD v2: 1-62973694-T-C
• gnomAD v3: 1-62508023-T-C
• gnomAD v4: 1-62508023-T-C
• MyVariant Identifiers: chr1:g.62973694T>C (hg19) ; chr1:g.62508023T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62508023T>C , CM000663.2:g.62508023T>C	GRCh38
NC_000001.10:g.62973694T>C , CM000663.1:g.62973694T>C	GRCh37
NC_000001.9:g.62746282T>C	NCBI36
NG_033073.1:g.185346A>G
NG_033073.2:g.185346A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635253.2:c.4415A>G MANE Select	ENSP00000489124.1:p.Asp1472Gly
ENST00000635983.1:n.825A>G
ENST00000637208.1:c.*2508A>G	ENSP00000490079.1:n.*2508A>G
ENST00000637255.1:c.1688A>G	ENSP00000490888.1:p.Asp563Gly
ENST00000251157.10:c.4388A>G	ENSP00000251157.6:p.Asp1463Gly
ENST00000340370.10:c.4322A>G	ENSP00000340742.5:p.Asp1441Gly
ENST00000454575.6:c.4388A>G	ENSP00000413583.2:p.Asp1463Gly
ENST00000634264.1:c.4295A>G	ENSP00000489284.1:p.Asp1432Gly
ENST00000635123.1:c.4295A>G	ENSP00000489499.1:p.Asp1432Gly
ENST00000635253.1:c.4415A>G	ENSP00000489124.1:p.Asp1472Gly
ENST00000635286.1:n.493A>G
NM_001271999.1:c.4388A>G	NP_001258928.1:p.Asp1463Gly
NM_001272000.1:c.4295A>G	NP_001258929.1:p.Asp1432Gly
NM_001272001.1:c.4295A>G	NP_001258930.1:p.Asp1432Gly
NM_033407.3:c.4322A>G	NP_212132.2:p.Asp1441Gly
XM_005271292.1:c.4388A>G	XP_005271349.1:p.Asp1463Gly
XM_011542326.1:c.4415A>G	XP_011540628.1:p.Asp1472Gly
XM_011542327.1:c.4415A>G	XP_011540629.1:p.Asp1472Gly
XM_011542328.1:c.4415A>G	XP_011540630.1:p.Asp1472Gly
XM_011542329.1:c.4415A>G	XP_011540631.1:p.Asp1472Gly
XM_011542330.1:c.4415A>G	XP_011540632.1:p.Asp1472Gly
NM_001330614.1:c.4388A>G	NP_001317543.1:p.Asp1463Gly
XM_011542326.2:c.4415A>G	XP_011540628.1:p.Asp1472Gly
XM_011542327.2:c.4415A>G	XP_011540629.1:p.Asp1472Gly
XM_011542328.2:c.4415A>G	XP_011540630.1:p.Asp1472Gly
XM_011542330.2:c.4415A>G	XP_011540632.1:p.Asp1472Gly
XM_017002639.1:c.4322A>G	XP_016858128.1:p.Asp1441Gly
XM_017002640.1:c.4415A>G	XP_016858129.1:p.Asp1472Gly
NM_001367561.1:c.4415A>G MANE Select	NP_001354490.1:p.Asp1472Gly
NM_001271999.2:c.4388A>G	NP_001258928.1:p.Asp1463Gly
NM_001272000.2:c.4295A>G	NP_001258929.1:p.Asp1432Gly
NM_001272001.2:c.4295A>G	NP_001258930.1:p.Asp1432Gly
NM_001330614.2:c.4388A>G	NP_001317543.1:p.Asp1463Gly
NM_033407.4:c.4322A>G	NP_212132.2:p.Asp1441Gly