Canonical Allele Identifier: CA23757229

Gene: DOCK7

Linked Data

• dbSNP Id: rs10889332
• gnomAD v2: 1-62950858-C-T
• gnomAD v3: 1-62485187-C-T
• gnomAD v4: 1-62485187-C-T
• MyVariant Identifiers: chr1:g.62950858C>T (hg19) ; chr1:g.62485187C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62485187C>T , CM000663.2:g.62485187C>T	GRCh38
NC_000001.10:g.62950858C>T , CM000663.1:g.62950858C>T	GRCh37
NC_000001.9:g.62723446C>T	NCBI36
NG_033073.1:g.208182G>A
NG_033073.2:g.208182G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000635253.2:c.5508+2211G>A MANE Select	ENSP00000489124.1:n.5508+2211G>A
ENST00000635983.1:n.5178+472G>A
ENST00000636746.1:n.36+341G>A
ENST00000637208.1:c.*4068G>A	ENSP00000490079.1:n.*4068G>A
ENST00000637255.1:c.2766+3747G>A	ENSP00000490888.1:n.2766+3747G>A
ENST00000637735.1:n.38+472G>A
ENST00000251157.10:c.5481+2211G>A	ENSP00000251157.6:n.5481+2211G>A
ENST00000340370.10:c.5415+2211G>A	ENSP00000340742.5:n.5415+2211G>A
ENST00000454575.6:c.5466+3747G>A	ENSP00000413583.2:n.5466+3747G>A
ENST00000634264.1:c.5388+2211G>A	ENSP00000489284.1:n.5388+2211G>A
ENST00000634495.1:n.185+472G>A
ENST00000635088.1:c.244+2211G>A	ENSP00000489412.1:n.244+2211G>A
ENST00000635123.1:c.5373+3747G>A	ENSP00000489499.1:n.5373+3747G>A
ENST00000635253.1:c.5508+2211G>A	ENSP00000489124.1:n.5508+2211G>A
NM_001271999.1:c.5466+3747G>A	NP_001258928.1:n.5466+3747G>A
NM_001272000.1:c.5388+2211G>A	NP_001258929.1:n.5388+2211G>A
NM_001272001.1:c.5373+3747G>A	NP_001258930.1:n.5373+3747G>A
NM_033407.3:c.5415+2211G>A	NP_212132.2:n.5415+2211G>A
XM_005271292.1:c.5481+2211G>A	XP_005271349.1:n.5481+2211G>A
XM_011542326.1:c.5508+2211G>A	XP_011540628.1:n.5508+2211G>A
XM_011542327.1:c.5493+3747G>A	XP_011540629.1:n.5493+3747G>A
XM_011542328.1:c.5493+3747G>A	XP_011540630.1:n.5493+3747G>A
XM_011542329.1:c.5553+422G>A	XP_011540631.1:n.5553+422G>A
XM_011542330.1:c.5508+2211G>A	XP_011540632.1:n.5508+2211G>A
NM_001330614.1:c.5481+2211G>A	NP_001317543.1:n.5481+2211G>A
XM_011542326.2:c.5508+2211G>A	XP_011540628.1:n.5508+2211G>A
XM_011542327.2:c.5493+3747G>A	XP_011540629.1:n.5493+3747G>A
XM_011542328.2:c.5493+3747G>A	XP_011540630.1:n.5493+3747G>A
XM_011542330.2:c.5508+2211G>A	XP_011540632.1:n.5508+2211G>A
XM_017002639.1:c.5400+3747G>A	XP_016858128.1:n.5400+3747G>A
XM_017002640.1:c.*383G>A	XP_016858129.1:n.*383G>A
NM_001367561.1:c.5508+2211G>A MANE Select	NP_001354490.1:n.5508+2211G>A
NM_001271999.2:c.5466+3747G>A	NP_001258928.1:n.5466+3747G>A
NM_001272000.2:c.5388+2211G>A	NP_001258929.1:n.5388+2211G>A
NM_001272001.2:c.5373+3747G>A	NP_001258930.1:n.5373+3747G>A
NM_001330614.2:c.5481+2211G>A	NP_001317543.1:n.5481+2211G>A
NM_033407.4:c.5415+2211G>A	NP_212132.2:n.5415+2211G>A