Canonical Allele Identifier: CA251739

Gene: DOK7

Linked Data

• ClinVar Variation Id: 1279
• ClinVar RCV Id: RCV000001341 ; RCV001781161 ; RCV001851535
• dbSNP Id: rs118203995
• ExAC: 4:3487334 C / T
• gnomAD v2: 4-3487334-C-T
• gnomAD v4: 4-3485607-C-T
• MyVariant Identifiers: chr4:g.3487334C>T (hg19) ; chr4:g.3485607C>T (hg38)
• PubMed: PMID:16917026

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3485607C>T , CM000666.2:g.3485607C>T	GRCh38
NC_000004.11:g.3487334C>T , CM000666.1:g.3487334C>T	GRCh37
NC_000004.10:g.3457132C>T	NCBI36
NG_013072.2:g.27302C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340083.6:c.601C>T MANE Select	ENSP00000344432.5:p.Arg201Ter
ENST00000643608.1:c.169C>T	ENSP00000495701.1:p.Arg57Ter
ENST00000340083.5:c.601C>T	ENSP00000344432.5:p.Arg201Ter
ENST00000503688.5:n.234C>T
ENST00000507039.5:c.590C>T	ENSP00000423614.1:p.Pro197Leu
ENST00000513995.1:n.259C>T
ENST00000515886.5:n.369C>T
NM_001164673.1:c.590C>T	NP_001158145.1:p.Pro197Leu
NM_001256896.1:c.-330C>T	NP_001243825.1:n.-330C>T
NM_001301071.1:c.601C>T	NP_001288000.1:p.Arg201Ter
NM_173660.4:c.601C>T	NP_775931.3:p.Arg201Ter
XM_011513435.1:c.601C>T	XP_011511737.1:p.Arg201Ter
XM_011513436.1:c.601C>T	XP_011511738.1:p.Arg201Ter
XM_011513437.1:c.187C>T	XP_011511739.1:p.Arg63Ter
NM_001363811.1:c.169C>T	NP_001350740.1:p.Arg57Ter
XM_011513435.2:c.601C>T	XP_011511737.1:p.Arg201Ter
XM_011513437.2:c.187C>T	XP_011511739.1:p.Arg63Ter
NM_173660.5:c.601C>T MANE Select	NP_775931.3:p.Arg201Ter
NM_001164673.2:c.590C>T	NP_001158145.1:p.Pro197Leu
NM_001301071.2:c.601C>T	NP_001288000.1:p.Arg201Ter
NM_001363811.2:c.169C>T	NP_001350740.1:p.Arg57Ter
NM_001256896.2:c.-330C>T	NP_001243825.1:n.-330C>T