Canonical Allele Identifier: CA340617127

Gene: DOCK7

Linked Data

• dbSNP Id: rs1414293283
• gnomAD v3: 1-62625360-C-T
• gnomAD v4: 1-62625360-C-T
• MyVariant Identifiers: chr1:g.63091031C>T (hg19) ; chr1:g.62625360C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62625360C>T , CM000663.2:g.62625360C>T	GRCh38
NC_000001.10:g.63091031C>T , CM000663.1:g.63091031C>T	GRCh37
NC_000001.9:g.62863619C>T	NCBI36
NG_033073.1:g.68009G>A
NG_033073.2:g.68009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614472.5:c.1030G>A	ENSP00000483062.2:n.1030G>A
ENST00000635253.2:c.1324G>A MANE Select	ENSP00000489124.1:p.Val442Ile
ENST00000637208.1:c.1324G>A	ENSP00000490079.1:p.Val442Ile
ENST00000251157.10:c.1324G>A	ENSP00000251157.6:p.Val442Ile
ENST00000340370.10:c.1324G>A	ENSP00000340742.5:p.Val442Ile
ENST00000404627.3:c.1324G>A	ENSP00000384446.2:p.Val442Ile
ENST00000454575.6:c.1324G>A	ENSP00000413583.2:p.Val442Ile
ENST00000464312.1:c.257G>A
ENST00000614472.4:c.1000G>A	ENSP00000483062.1:p.Val334Ile
ENST00000634264.1:c.1324G>A	ENSP00000489284.1:p.Val442Ile
ENST00000635123.1:c.1324G>A	ENSP00000489499.1:p.Val442Ile
ENST00000635253.1:c.1324G>A	ENSP00000489124.1:p.Val442Ile
NM_001271999.1:c.1324G>A	NP_001258928.1:p.Val442Ile
NM_001272000.1:c.1324G>A	NP_001258929.1:p.Val442Ile
NM_001272001.1:c.1324G>A	NP_001258930.1:p.Val442Ile
NM_001272002.1:c.1324G>A	NP_001258931.1:p.Val442Ile
NM_033407.3:c.1324G>A	NP_212132.2:p.Val442Ile
XM_005271292.1:c.1324G>A	XP_005271349.1:p.Val442Ile
XM_011542326.1:c.1324G>A	XP_011540628.1:p.Val442Ile
XM_011542327.1:c.1324G>A	XP_011540629.1:p.Val442Ile
XM_011542328.1:c.1324G>A	XP_011540630.1:p.Val442Ile
XM_011542329.1:c.1324G>A	XP_011540631.1:p.Val442Ile
XM_011542330.1:c.1324G>A	XP_011540632.1:p.Val442Ile
NM_001330614.1:c.1324G>A	NP_001317543.1:p.Val442Ile
XM_011542326.2:c.1324G>A	XP_011540628.1:p.Val442Ile
XM_011542327.2:c.1324G>A	XP_011540629.1:p.Val442Ile
XM_011542328.2:c.1324G>A	XP_011540630.1:p.Val442Ile
XM_011542330.2:c.1324G>A	XP_011540632.1:p.Val442Ile
XM_017002639.1:c.1324G>A	XP_016858128.1:p.Val442Ile
XM_017002640.1:c.1324G>A	XP_016858129.1:p.Val442Ile
NM_001367561.1:c.1324G>A MANE Select	NP_001354490.1:p.Val442Ile
NM_001272002.2:c.1324G>A	NP_001258931.1:p.Val442Ile
NM_001271999.2:c.1324G>A	NP_001258928.1:p.Val442Ile
NM_001272000.2:c.1324G>A	NP_001258929.1:p.Val442Ile
NM_001272001.2:c.1324G>A	NP_001258930.1:p.Val442Ile
NM_001330614.2:c.1324G>A	NP_001317543.1:p.Val442Ile
NM_033407.4:c.1324G>A	NP_212132.2:p.Val442Ile