Canonical Allele Identifier: CA23741015

Gene: DOCK7

Linked Data

• dbSNP Id: rs1003067316
• gnomAD v2: 1-62931660-T-C
• gnomAD v3: 1-62465989-T-C
• gnomAD v4: 1-62465989-T-C
• MyVariant Identifiers: chr1:g.62931660T>C (hg19) ; chr1:g.62465989T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62465989T>C , CM000663.2:g.62465989T>C	GRCh38
NC_000001.10:g.62931660T>C , CM000663.1:g.62931660T>C	GRCh37
NC_000001.9:g.62704248T>C	NCBI36
NG_033073.1:g.227380A>G
NG_033073.2:g.227380A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634495.2:n.2353+7993A>G
ENST00000635253.2:c.6212+7993A>G MANE Select	ENSP00000489124.1:n.6212+7993A>G
ENST00000635983.1:n.5891+7993A>G
ENST00000637255.1:c.3479+7993A>G	ENSP00000490888.1:n.3479+7993A>G
ENST00000637306.1:n.64-5019A>G
ENST00000251157.10:c.6185+7993A>G	ENSP00000251157.6:n.6185+7993A>G
ENST00000340370.10:c.6119+7993A>G	ENSP00000340742.5:n.6119+7993A>G
ENST00000454575.6:c.6179+7993A>G	ENSP00000413583.2:n.6179+7993A>G
ENST00000634264.1:c.6092+7993A>G	ENSP00000489284.1:n.6092+7993A>G
ENST00000634495.1:n.898+7993A>G
ENST00000635123.1:c.6086+7993A>G	ENSP00000489499.1:n.6086+7993A>G
ENST00000635253.1:c.6212+7993A>G	ENSP00000489124.1:n.6212+7993A>G
NM_001271999.1:c.6179+7993A>G	NP_001258928.1:n.6179+7993A>G
NM_001272000.1:c.6092+7993A>G	NP_001258929.1:n.6092+7993A>G
NM_001272001.1:c.6086+7993A>G	NP_001258930.1:n.6086+7993A>G
NM_033407.3:c.6119+7993A>G	NP_212132.2:n.6119+7993A>G
XM_005271292.1:c.6185+7993A>G	XP_005271349.1:n.6185+7993A>G
XM_011542326.1:c.6212+7993A>G	XP_011540628.1:n.6212+7993A>G
XM_011542327.1:c.6206+7993A>G	XP_011540629.1:n.6206+7993A>G
XM_011542328.1:c.6197+7993A>G	XP_011540630.1:n.6197+7993A>G
NM_001330614.1:c.6185+7993A>G	NP_001317543.1:n.6185+7993A>G
XM_011542326.2:c.6212+7993A>G	XP_011540628.1:n.6212+7993A>G
XM_011542327.2:c.6206+7993A>G	XP_011540629.1:n.6206+7993A>G
XM_011542328.2:c.6197+7993A>G	XP_011540630.1:n.6197+7993A>G
XM_017002639.1:c.6113+7993A>G	XP_016858128.1:n.6113+7993A>G
NM_001367561.1:c.6212+7993A>G MANE Select	NP_001354490.1:n.6212+7993A>G
NM_001271999.2:c.6179+7993A>G	NP_001258928.1:n.6179+7993A>G
NM_001272000.2:c.6092+7993A>G	NP_001258929.1:n.6092+7993A>G
NM_001272001.2:c.6086+7993A>G	NP_001258930.1:n.6086+7993A>G
NM_001330614.2:c.6185+7993A>G	NP_001317543.1:n.6185+7993A>G
NM_033407.4:c.6119+7993A>G	NP_212132.2:n.6119+7993A>G