Canonical Allele Identifier: CA4958762

Gene: DOCK8

Linked Data

• dbSNP Id: rs758993681
• ExAC: 9:414863 A / C
• gnomAD v2: 9-414863-A-C
• gnomAD v3: 9-414863-A-C
• gnomAD v4: 9-414863-A-C
• MyVariant Identifiers: chr9:g.414863A>C (hg19) ; chr9:g.414863A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414863A>C , CM000671.2:g.414863A>C	GRCh38
NC_000009.11:g.414863A>C , CM000671.1:g.414863A>C	GRCh37
NC_000009.10:g.404863A>C	NCBI36
NG_017007.1:g.204999A>C , LRG_196:g.204999A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3312A>C	ENSP00000371766.2:p.Lys1104Asn
ENST00000683406.1:n.133A>C
ENST00000685949.1:n.2400A>C
ENST00000432829.7:c.3612A>C MANE Select	ENSP00000394888.3:p.Lys1204Asn
ENST00000382329.1:c.2013A>C	ENSP00000371766.1:p.Lys671Asn
ENST00000432829.6:c.3612A>C	ENSP00000394888.3:p.Lys1204Asn
ENST00000453981.5:c.3408A>C	ENSP00000408464.2:p.Lys1136Asn
ENST00000469391.5:c.3312A>C	ENSP00000419438.1:p.Lys1104Asn
ENST00000495184.5:n.5567A>C
NM_001190458.1:c.3312A>C	NP_001177387.1:p.Lys1104Asn
NM_001193536.1:c.3408A>C	NP_001180465.1:p.Lys1136Asn
NM_203447.3:c.3612A>C , LRG_196t1:c.3612A>C	NP_982272.2:p.Lys1204Asn
XM_011518045.1:c.3312A>C	XP_011516347.1:p.Lys1104Asn
XM_011518046.1:c.3474A>C	XP_011516348.1:p.Lys1158Asn
XM_011518047.1:c.3408A>C	XP_011516349.1:p.Lys1136Asn
XM_011518048.1:c.3408A>C	XP_011516350.1:p.Lys1136Asn
XM_011518049.1:c.1848A>C	XP_011516351.1:p.Lys616Asn
XM_011518045.3:c.3312A>C	XP_011516347.1:p.Lys1104Asn
XM_011518046.2:c.3474A>C	XP_011516348.1:p.Lys1158Asn
XM_011518047.3:c.3408A>C	XP_011516349.1:p.Lys1136Asn
XM_011518048.2:c.3408A>C	XP_011516350.1:p.Lys1136Asn
XM_011518049.2:c.1848A>C	XP_011516351.1:p.Lys616Asn
XM_017015173.1:c.3408A>C	XP_016870662.1:p.Lys1136Asn
XM_017015174.1:c.3474A>C	XP_016870663.1:p.Lys1158Asn
NM_001190458.2:c.3312A>C	NP_001177387.1:p.Lys1104Asn
NM_001193536.2:c.3408A>C	NP_001180465.1:p.Lys1136Asn
NM_203447.4:c.3612A>C MANE Select	NP_982272.2:p.Lys1204Asn