Canonical Allele Identifier: CA251738

Gene: DOK7

Linked Data

• ClinVar Variation Id: 1278
• ClinVar RCV Id: RCV000001340 ; RCV003238720
• dbSNP Id: rs118203994
• ExAC: 4:3487272 G / C
• gnomAD v2: 4-3487272-G-C
• gnomAD v4: 4-3485545-G-C
• MyVariant Identifiers: chr4:g.3487272G>C (hg19) ; chr4:g.3485545G>C (hg38)
• PubMed: PMID:16917026

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000340083.6:c.539G>C MANE Select	ENSP00000344432.5:p.Gly180Ala
ENST00000643608.1:c.107G>C	ENSP00000495701.1:p.Gly36Ala
ENST00000340083.5:c.539G>C	ENSP00000344432.5:p.Gly180Ala
ENST00000503688.5:n.172G>C
ENST00000507039.5:c.528G>C	ENSP00000423614.1:p.Trp176Cys
ENST00000513995.1:n.197G>C
ENST00000515886.5:n.307G>C
NM_001164673.1:c.528G>C	NP_001158145.1:p.Trp176Cys
NM_001256896.1:c.-392G>C	NP_001243825.1:n.-392G>C
NM_001301071.1:c.539G>C	NP_001288000.1:p.Gly180Ala
NM_173660.4:c.539G>C	NP_775931.3:p.Gly180Ala
XM_011513435.1:c.539G>C	XP_011511737.1:p.Gly180Ala
XM_011513436.1:c.539G>C	XP_011511738.1:p.Gly180Ala
XM_011513437.1:c.125G>C	XP_011511739.1:p.Gly42Ala
NM_001363811.1:c.107G>C	NP_001350740.1:p.Gly36Ala
XM_011513435.2:c.539G>C	XP_011511737.1:p.Gly180Ala
XM_011513437.2:c.125G>C	XP_011511739.1:p.Gly42Ala
NM_173660.5:c.539G>C MANE Select	NP_775931.3:p.Gly180Ala
NM_001164673.2:c.528G>C	NP_001158145.1:p.Trp176Cys
NM_001301071.2:c.539G>C	NP_001288000.1:p.Gly180Ala
NM_001363811.2:c.107G>C	NP_001350740.1:p.Gly36Ala
NM_001256896.2:c.-392G>C	NP_001243825.1:n.-392G>C