Canonical Allele Identifier: CA356114875

Gene: DOK7

Linked Data

• dbSNP Id: rs118203994
• gnomAD v2: 4-3487272-G-A
• gnomAD v4: 4-3485545-G-A
• MyVariant Identifiers: chr4:g.3487272G>A (hg19) ; chr4:g.3485545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3485545G>A , CM000666.2:g.3485545G>A	GRCh38
NC_000004.11:g.3487272G>A , CM000666.1:g.3487272G>A	GRCh37
NC_000004.10:g.3457070G>A	NCBI36
NG_013072.2:g.27240G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340083.6:c.539G>A MANE Select	ENSP00000344432.5:p.Gly180Asp
ENST00000643608.1:c.107G>A	ENSP00000495701.1:p.Gly36Asp
ENST00000340083.5:c.539G>A	ENSP00000344432.5:p.Gly180Asp
ENST00000503688.5:n.172G>A
ENST00000507039.5:c.528G>A	ENSP00000423614.1:p.Trp176Ter
ENST00000513995.1:n.197G>A
ENST00000515886.5:n.307G>A
NM_001164673.1:c.528G>A	NP_001158145.1:p.Trp176Ter
NM_001256896.1:c.-392G>A	NP_001243825.1:n.-392G>A
NM_001301071.1:c.539G>A	NP_001288000.1:p.Gly180Asp
NM_173660.4:c.539G>A	NP_775931.3:p.Gly180Asp
XM_011513435.1:c.539G>A	XP_011511737.1:p.Gly180Asp
XM_011513436.1:c.539G>A	XP_011511738.1:p.Gly180Asp
XM_011513437.1:c.125G>A	XP_011511739.1:p.Gly42Asp
NM_001363811.1:c.107G>A	NP_001350740.1:p.Gly36Asp
XM_011513435.2:c.539G>A	XP_011511737.1:p.Gly180Asp
XM_011513437.2:c.125G>A	XP_011511739.1:p.Gly42Asp
NM_173660.5:c.539G>A MANE Select	NP_775931.3:p.Gly180Asp
NM_001164673.2:c.528G>A	NP_001158145.1:p.Trp176Ter
NM_001301071.2:c.539G>A	NP_001288000.1:p.Gly180Asp
NM_001363811.2:c.107G>A	NP_001350740.1:p.Gly36Asp
NM_001256896.2:c.-392G>A	NP_001243825.1:n.-392G>A