Canonical Allele Identifier: CA737703836

Gene: DOCK7

Linked Data

• dbSNP Id: rs1303828032
• gnomAD v3: 1-62466002-G-A
• gnomAD v4: 1-62466002-G-A
• MyVariant Identifiers: chr1:g.62931673G>A (hg19) ; chr1:g.62466002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62466002G>A , CM000663.2:g.62466002G>A	GRCh38
NC_000001.10:g.62931673G>A , CM000663.1:g.62931673G>A	GRCh37
NC_000001.9:g.62704261G>A	NCBI36
NG_033073.1:g.227367C>T
NG_033073.2:g.227367C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634495.2:n.2353+7980C>T
ENST00000635253.2:c.6212+7980C>T MANE Select	ENSP00000489124.1:n.6212+7980C>T
ENST00000635983.1:n.5891+7980C>T
ENST00000637255.1:c.3479+7980C>T	ENSP00000490888.1:n.3479+7980C>T
ENST00000637306.1:n.64-5032C>T
ENST00000251157.10:c.6185+7980C>T	ENSP00000251157.6:n.6185+7980C>T
ENST00000340370.10:c.6119+7980C>T	ENSP00000340742.5:n.6119+7980C>T
ENST00000454575.6:c.6179+7980C>T	ENSP00000413583.2:n.6179+7980C>T
ENST00000634264.1:c.6092+7980C>T	ENSP00000489284.1:n.6092+7980C>T
ENST00000634495.1:n.898+7980C>T
ENST00000635123.1:c.6086+7980C>T	ENSP00000489499.1:n.6086+7980C>T
ENST00000635253.1:c.6212+7980C>T	ENSP00000489124.1:n.6212+7980C>T
NM_001271999.1:c.6179+7980C>T	NP_001258928.1:n.6179+7980C>T
NM_001272000.1:c.6092+7980C>T	NP_001258929.1:n.6092+7980C>T
NM_001272001.1:c.6086+7980C>T	NP_001258930.1:n.6086+7980C>T
NM_033407.3:c.6119+7980C>T	NP_212132.2:n.6119+7980C>T
XM_005271292.1:c.6185+7980C>T	XP_005271349.1:n.6185+7980C>T
XM_011542326.1:c.6212+7980C>T	XP_011540628.1:n.6212+7980C>T
XM_011542327.1:c.6206+7980C>T	XP_011540629.1:n.6206+7980C>T
XM_011542328.1:c.6197+7980C>T	XP_011540630.1:n.6197+7980C>T
NM_001330614.1:c.6185+7980C>T	NP_001317543.1:n.6185+7980C>T
XM_011542326.2:c.6212+7980C>T	XP_011540628.1:n.6212+7980C>T
XM_011542327.2:c.6206+7980C>T	XP_011540629.1:n.6206+7980C>T
XM_011542328.2:c.6197+7980C>T	XP_011540630.1:n.6197+7980C>T
XM_017002639.1:c.6113+7980C>T	XP_016858128.1:n.6113+7980C>T
NM_001367561.1:c.6212+7980C>T MANE Select	NP_001354490.1:n.6212+7980C>T
NM_001271999.2:c.6179+7980C>T	NP_001258928.1:n.6179+7980C>T
NM_001272000.2:c.6092+7980C>T	NP_001258929.1:n.6092+7980C>T
NM_001272001.2:c.6086+7980C>T	NP_001258930.1:n.6086+7980C>T
NM_001330614.2:c.6185+7980C>T	NP_001317543.1:n.6185+7980C>T
NM_033407.4:c.6119+7980C>T	NP_212132.2:n.6119+7980C>T