Canonical Allele Identifier: CA23741003

Gene: DOCK7

Linked Data

• dbSNP Id: rs962288541
• gnomAD v3: 1-62465985-A-T
• gnomAD v4: 1-62465985-A-T
• MyVariant Identifiers: chr1:g.62931656A>T (hg19) ; chr1:g.62465985A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62465985A>T , CM000663.2:g.62465985A>T	GRCh38
NC_000001.10:g.62931656A>T , CM000663.1:g.62931656A>T	GRCh37
NC_000001.9:g.62704244A>T	NCBI36
NG_033073.1:g.227384T>A
NG_033073.2:g.227384T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634495.2:n.2353+7997T>A
ENST00000635253.2:c.6212+7997T>A MANE Select	ENSP00000489124.1:n.6212+7997T>A
ENST00000635983.1:n.5891+7997T>A
ENST00000637255.1:c.3479+7997T>A	ENSP00000490888.1:n.3479+7997T>A
ENST00000637306.1:n.64-5015T>A
ENST00000251157.10:c.6185+7997T>A	ENSP00000251157.6:n.6185+7997T>A
ENST00000340370.10:c.6119+7997T>A	ENSP00000340742.5:n.6119+7997T>A
ENST00000454575.6:c.6179+7997T>A	ENSP00000413583.2:n.6179+7997T>A
ENST00000634264.1:c.6092+7997T>A	ENSP00000489284.1:n.6092+7997T>A
ENST00000634495.1:n.898+7997T>A
ENST00000635123.1:c.6086+7997T>A	ENSP00000489499.1:n.6086+7997T>A
ENST00000635253.1:c.6212+7997T>A	ENSP00000489124.1:n.6212+7997T>A
NM_001271999.1:c.6179+7997T>A	NP_001258928.1:n.6179+7997T>A
NM_001272000.1:c.6092+7997T>A	NP_001258929.1:n.6092+7997T>A
NM_001272001.1:c.6086+7997T>A	NP_001258930.1:n.6086+7997T>A
NM_033407.3:c.6119+7997T>A	NP_212132.2:n.6119+7997T>A
XM_005271292.1:c.6185+7997T>A	XP_005271349.1:n.6185+7997T>A
XM_011542326.1:c.6212+7997T>A	XP_011540628.1:n.6212+7997T>A
XM_011542327.1:c.6206+7997T>A	XP_011540629.1:n.6206+7997T>A
XM_011542328.1:c.6197+7997T>A	XP_011540630.1:n.6197+7997T>A
NM_001330614.1:c.6185+7997T>A	NP_001317543.1:n.6185+7997T>A
XM_011542326.2:c.6212+7997T>A	XP_011540628.1:n.6212+7997T>A
XM_011542327.2:c.6206+7997T>A	XP_011540629.1:n.6206+7997T>A
XM_011542328.2:c.6197+7997T>A	XP_011540630.1:n.6197+7997T>A
XM_017002639.1:c.6113+7997T>A	XP_016858128.1:n.6113+7997T>A
NM_001367561.1:c.6212+7997T>A MANE Select	NP_001354490.1:n.6212+7997T>A
NM_001271999.2:c.6179+7997T>A	NP_001258928.1:n.6179+7997T>A
NM_001272000.2:c.6092+7997T>A	NP_001258929.1:n.6092+7997T>A
NM_001272001.2:c.6086+7997T>A	NP_001258930.1:n.6086+7997T>A
NM_001330614.2:c.6185+7997T>A	NP_001317543.1:n.6185+7997T>A
NM_033407.4:c.6119+7997T>A	NP_212132.2:n.6119+7997T>A