Canonical Allele Identifier: CA4959387

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 2893195
• ClinVar RCV Id: RCV003764215
• dbSNP Id: rs750791600
• ExAC: 9:441366 G / C
• gnomAD v2: 9-441366-G-C
• gnomAD v4: 9-441366-G-C
• MyVariant Identifiers: chr9:g.441366G>C (hg19) ; chr9:g.441366G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.441366G>C , CM000671.2:g.441366G>C	GRCh38
NC_000009.11:g.441366G>C , CM000671.1:g.441366G>C	GRCh37
NC_000009.10:g.431366G>C	NCBI36
NG_017007.1:g.231502G>C , LRG_196:g.231502G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.5004G>C	ENSP00000371766.2:p.Leu1668=
ENST00000683406.1:n.1779G>C
ENST00000684637.1:n.985G>C
ENST00000685949.1:n.4092G>C
ENST00000432829.7:c.5304G>C MANE Select	ENSP00000394888.3:p.Leu1768=
ENST00000382329.1:c.3705G>C	ENSP00000371766.1:p.Leu1235=
ENST00000432829.6:c.5304G>C	ENSP00000394888.3:p.Leu1768=
ENST00000453981.5:c.5100G>C	ENSP00000408464.2:p.Leu1700=
ENST00000469391.5:c.5004G>C	ENSP00000419438.1:p.Leu1668=
ENST00000495184.5:n.7259G>C
NM_001190458.1:c.5004G>C	NP_001177387.1:p.Leu1668=
NM_001193536.1:c.5100G>C	NP_001180465.1:p.Leu1700=
NM_203447.3:c.5304G>C , LRG_196t1:c.5304G>C	NP_982272.2:p.Leu1768=
XM_011518045.1:c.5004G>C	XP_011516347.1:p.Leu1668=
XM_011518046.1:c.5166G>C	XP_011516348.1:p.Leu1722=
XM_011518047.1:c.5100G>C	XP_011516349.1:p.Leu1700=
XM_011518048.1:c.5100G>C	XP_011516350.1:p.Leu1700=
XM_011518049.1:c.3540G>C	XP_011516351.1:p.Leu1180=
XM_011518045.3:c.5004G>C	XP_011516347.1:p.Leu1668=
XM_011518046.2:c.5166G>C	XP_011516348.1:p.Leu1722=
XM_011518047.3:c.5100G>C	XP_011516349.1:p.Leu1700=
XM_011518048.2:c.5100G>C	XP_011516350.1:p.Leu1700=
XM_011518049.2:c.3540G>C	XP_011516351.1:p.Leu1180=
XM_017015173.1:c.5100G>C	XP_016870662.1:p.Leu1700=
XM_017015174.1:c.5166G>C	XP_016870663.1:p.Leu1722=
NM_001190458.2:c.5004G>C	NP_001177387.1:p.Leu1668=
NM_001193536.2:c.5100G>C	NP_001180465.1:p.Leu1700=
NM_203447.4:c.5304G>C MANE Select	NP_982272.2:p.Leu1768=