Canonical Allele Identifier: CA523530721

Gene: DOCK7

Linked Data

• dbSNP Id: rs893569676
• gnomAD v2: 1-62950876-A-C
• gnomAD v3: 1-62485205-A-C
• gnomAD v4: 1-62485205-A-C
• MyVariant Identifiers: chr1:g.62950876A>C (hg19) ; chr1:g.62485205A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62485205A>C , CM000663.2:g.62485205A>C	GRCh38
NC_000001.10:g.62950876A>C , CM000663.1:g.62950876A>C	GRCh37
NC_000001.9:g.62723464A>C	NCBI36
NG_033073.1:g.208164T>G
NG_033073.2:g.208164T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000635253.2:c.5508+2193T>G MANE Select	ENSP00000489124.1:n.5508+2193T>G
ENST00000635983.1:n.5178+454T>G
ENST00000636746.1:n.36+323T>G
ENST00000637208.1:c.*4050T>G	ENSP00000490079.1:n.*4050T>G
ENST00000637255.1:c.2766+3729T>G	ENSP00000490888.1:n.2766+3729T>G
ENST00000637735.1:n.38+454T>G
ENST00000251157.10:c.5481+2193T>G	ENSP00000251157.6:n.5481+2193T>G
ENST00000340370.10:c.5415+2193T>G	ENSP00000340742.5:n.5415+2193T>G
ENST00000454575.6:c.5466+3729T>G	ENSP00000413583.2:n.5466+3729T>G
ENST00000634264.1:c.5388+2193T>G	ENSP00000489284.1:n.5388+2193T>G
ENST00000634495.1:n.185+454T>G
ENST00000635088.1:c.244+2193T>G	ENSP00000489412.1:n.244+2193T>G
ENST00000635123.1:c.5373+3729T>G	ENSP00000489499.1:n.5373+3729T>G
ENST00000635253.1:c.5508+2193T>G	ENSP00000489124.1:n.5508+2193T>G
NM_001271999.1:c.5466+3729T>G	NP_001258928.1:n.5466+3729T>G
NM_001272000.1:c.5388+2193T>G	NP_001258929.1:n.5388+2193T>G
NM_001272001.1:c.5373+3729T>G	NP_001258930.1:n.5373+3729T>G
NM_033407.3:c.5415+2193T>G	NP_212132.2:n.5415+2193T>G
XM_005271292.1:c.5481+2193T>G	XP_005271349.1:n.5481+2193T>G
XM_011542326.1:c.5508+2193T>G	XP_011540628.1:n.5508+2193T>G
XM_011542327.1:c.5493+3729T>G	XP_011540629.1:n.5493+3729T>G
XM_011542328.1:c.5493+3729T>G	XP_011540630.1:n.5493+3729T>G
XM_011542329.1:c.5553+404T>G	XP_011540631.1:n.5553+404T>G
XM_011542330.1:c.5508+2193T>G	XP_011540632.1:n.5508+2193T>G
NM_001330614.1:c.5481+2193T>G	NP_001317543.1:n.5481+2193T>G
XM_011542326.2:c.5508+2193T>G	XP_011540628.1:n.5508+2193T>G
XM_011542327.2:c.5493+3729T>G	XP_011540629.1:n.5493+3729T>G
XM_011542328.2:c.5493+3729T>G	XP_011540630.1:n.5493+3729T>G
XM_011542330.2:c.5508+2193T>G	XP_011540632.1:n.5508+2193T>G
XM_017002639.1:c.5400+3729T>G	XP_016858128.1:n.5400+3729T>G
XM_017002640.1:c.*365T>G	XP_016858129.1:n.*365T>G
NM_001367561.1:c.5508+2193T>G MANE Select	NP_001354490.1:n.5508+2193T>G
NM_001271999.2:c.5466+3729T>G	NP_001258928.1:n.5466+3729T>G
NM_001272000.2:c.5388+2193T>G	NP_001258929.1:n.5388+2193T>G
NM_001272001.2:c.5373+3729T>G	NP_001258930.1:n.5373+3729T>G
NM_001330614.2:c.5481+2193T>G	NP_001317543.1:n.5481+2193T>G
NM_033407.4:c.5415+2193T>G	NP_212132.2:n.5415+2193T>G