Canonical Allele Identifier: CA886966

Gene: DOCK7

Linked Data

• ClinVar Variation Id: 475125
• ClinVar RCV Id: RCV000711492 ; RCV001083924
• dbSNP Id: rs35627175
• ExAC: 1:63090966 T / G
• gnomAD v2: 1-63090966-T-G
• gnomAD v3: 1-62625295-T-G
• gnomAD v4: 1-62625295-T-G
• MyVariant Identifiers: chr1:g.63090966T>G (hg19) ; chr1:g.62625295T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62625295T>G , CM000663.2:g.62625295T>G	GRCh38
NC_000001.10:g.63090966T>G , CM000663.1:g.63090966T>G	GRCh37
NC_000001.9:g.62863554T>G	NCBI36
NG_033073.1:g.68074A>C
NG_033073.2:g.68074A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614472.5:c.1095A>C	ENSP00000483062.2:n.1095A>C
ENST00000635253.2:c.1389A>C MANE Select	ENSP00000489124.1:p.Arg463=
ENST00000637208.1:c.1389A>C	ENSP00000490079.1:p.Arg463=
ENST00000251157.10:c.1389A>C	ENSP00000251157.6:p.Arg463=
ENST00000340370.10:c.1389A>C	ENSP00000340742.5:p.Arg463=
ENST00000404627.3:c.1389A>C	ENSP00000384446.2:p.Arg463=
ENST00000454575.6:c.1389A>C	ENSP00000413583.2:p.Arg463=
ENST00000464312.1:c.322A>C
ENST00000614472.4:c.1065A>C	ENSP00000483062.1:p.Arg355=
ENST00000634264.1:c.1389A>C	ENSP00000489284.1:p.Arg463=
ENST00000635123.1:c.1389A>C	ENSP00000489499.1:p.Arg463=
ENST00000635253.1:c.1389A>C	ENSP00000489124.1:p.Arg463=
NM_001271999.1:c.1389A>C	NP_001258928.1:p.Arg463=
NM_001272000.1:c.1389A>C	NP_001258929.1:p.Arg463=
NM_001272001.1:c.1389A>C	NP_001258930.1:p.Arg463=
NM_001272002.1:c.1389A>C	NP_001258931.1:p.Arg463=
NM_033407.3:c.1389A>C	NP_212132.2:p.Arg463=
XM_005271292.1:c.1389A>C	XP_005271349.1:p.Arg463=
XM_011542326.1:c.1389A>C	XP_011540628.1:p.Arg463=
XM_011542327.1:c.1389A>C	XP_011540629.1:p.Arg463=
XM_011542328.1:c.1389A>C	XP_011540630.1:p.Arg463=
XM_011542329.1:c.1389A>C	XP_011540631.1:p.Arg463=
XM_011542330.1:c.1389A>C	XP_011540632.1:p.Arg463=
NM_001330614.1:c.1389A>C	NP_001317543.1:p.Arg463=
XM_011542326.2:c.1389A>C	XP_011540628.1:p.Arg463=
XM_011542327.2:c.1389A>C	XP_011540629.1:p.Arg463=
XM_011542328.2:c.1389A>C	XP_011540630.1:p.Arg463=
XM_011542330.2:c.1389A>C	XP_011540632.1:p.Arg463=
XM_017002639.1:c.1389A>C	XP_016858128.1:p.Arg463=
XM_017002640.1:c.1389A>C	XP_016858129.1:p.Arg463=
NM_001367561.1:c.1389A>C MANE Select	NP_001354490.1:p.Arg463=
NM_001272002.2:c.1389A>C	NP_001258931.1:p.Arg463=
NM_001271999.2:c.1389A>C	NP_001258928.1:p.Arg463=
NM_001272000.2:c.1389A>C	NP_001258929.1:p.Arg463=
NM_001272001.2:c.1389A>C	NP_001258930.1:p.Arg463=
NM_001330614.2:c.1389A>C	NP_001317543.1:p.Arg463=
NM_033407.4:c.1389A>C	NP_212132.2:p.Arg463=