Canonical Allele Identifier: CA372753599

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 1410882
• ClinVar RCV Id: RCV003772796
• dbSNP Id: rs141697509
• MyVariant Identifiers: chr9:g.336715G>C (hg19) ; chr9:g.336715G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.336715G>C , CM000671.2:g.336715G>C	GRCh38
NC_000009.11:g.336715G>C , CM000671.1:g.336715G>C	GRCh37
NC_000009.10:g.326715G>C	NCBI36
NG_017007.1:g.126851G>C , LRG_196:g.126851G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.1215G>C	ENSP00000371766.2:p.Lys405Asn
ENST00000483757.6:c.1215G>C	ENSP00000417691.2:p.Lys405Asn
ENST00000432829.7:c.1419G>C MANE Select	ENSP00000394888.3:p.Lys473Asn
ENST00000382341.5:n.1314G>C
ENST00000432829.6:c.1419G>C	ENSP00000394888.3:p.Lys473Asn
ENST00000453981.5:c.1215G>C	ENSP00000408464.2:p.Lys405Asn
ENST00000454469.6:n.1528G>C
ENST00000469391.5:c.1215G>C	ENSP00000419438.1:p.Lys405Asn
ENST00000483757.5:c.1215G>C	ENSP00000417691.1:p.Lys405Asn
ENST00000495184.5:n.1280G>C
ENST00000524396.5:c.*1382G>C	ENSP00000436628.1:n.*1382G>C
NM_001190458.1:c.1215G>C	NP_001177387.1:p.Lys405Asn
NM_001193536.1:c.1215G>C	NP_001180465.1:p.Lys405Asn
NM_203447.3:c.1419G>C , LRG_196t1:c.1419G>C	NP_982272.2:p.Lys473Asn
XM_011518045.1:c.1215G>C	XP_011516347.1:p.Lys405Asn
XM_011518046.1:c.1281G>C	XP_011516348.1:p.Lys427Asn
XM_011518047.1:c.1215G>C	XP_011516349.1:p.Lys405Asn
XM_011518048.1:c.1215G>C	XP_011516350.1:p.Lys405Asn
XM_011518045.3:c.1215G>C	XP_011516347.1:p.Lys405Asn
XM_011518046.2:c.1281G>C	XP_011516348.1:p.Lys427Asn
XM_011518047.3:c.1215G>C	XP_011516349.1:p.Lys405Asn
XM_011518048.2:c.1215G>C	XP_011516350.1:p.Lys405Asn
XM_017015173.1:c.1215G>C	XP_016870662.1:p.Lys405Asn
XM_017015174.1:c.1281G>C	XP_016870663.1:p.Lys427Asn
NM_001190458.2:c.1215G>C	NP_001177387.1:p.Lys405Asn
NM_001193536.2:c.1215G>C	NP_001180465.1:p.Lys405Asn
NM_203447.4:c.1419G>C MANE Select	NP_982272.2:p.Lys473Asn