Canonical Allele Identifier: CA187777503

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 1620872
• ClinVar RCV Id: RCV003773829
• dbSNP Id: rs920590024
• gnomAD v3: 9-414896-C-T
• gnomAD v4: 9-414896-C-T
• MyVariant Identifiers: chr9:g.414896C>T (hg19) ; chr9:g.414896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414896C>T , CM000671.2:g.414896C>T	GRCh38
NC_000009.11:g.414896C>T , CM000671.1:g.414896C>T	GRCh37
NC_000009.10:g.404896C>T	NCBI36
NG_017007.1:g.205032C>T , LRG_196:g.205032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3345C>T	ENSP00000371766.2:p.Tyr1115=
ENST00000683406.1:n.166C>T
ENST00000685949.1:n.2433C>T
ENST00000432829.7:c.3645C>T MANE Select	ENSP00000394888.3:p.Tyr1215=
ENST00000382329.1:c.2046C>T	ENSP00000371766.1:p.Tyr682=
ENST00000432829.6:c.3645C>T	ENSP00000394888.3:p.Tyr1215=
ENST00000453981.5:c.3441C>T	ENSP00000408464.2:p.Tyr1147=
ENST00000469391.5:c.3345C>T	ENSP00000419438.1:p.Tyr1115=
ENST00000495184.5:n.5600C>T
NM_001190458.1:c.3345C>T	NP_001177387.1:p.Tyr1115=
NM_001193536.1:c.3441C>T	NP_001180465.1:p.Tyr1147=
NM_203447.3:c.3645C>T , LRG_196t1:c.3645C>T	NP_982272.2:p.Tyr1215=
XM_011518045.1:c.3345C>T	XP_011516347.1:p.Tyr1115=
XM_011518046.1:c.3507C>T	XP_011516348.1:p.Tyr1169=
XM_011518047.1:c.3441C>T	XP_011516349.1:p.Tyr1147=
XM_011518048.1:c.3441C>T	XP_011516350.1:p.Tyr1147=
XM_011518049.1:c.1881C>T	XP_011516351.1:p.Tyr627=
XM_011518045.3:c.3345C>T	XP_011516347.1:p.Tyr1115=
XM_011518046.2:c.3507C>T	XP_011516348.1:p.Tyr1169=
XM_011518047.3:c.3441C>T	XP_011516349.1:p.Tyr1147=
XM_011518048.2:c.3441C>T	XP_011516350.1:p.Tyr1147=
XM_011518049.2:c.1881C>T	XP_011516351.1:p.Tyr627=
XM_017015173.1:c.3441C>T	XP_016870662.1:p.Tyr1147=
XM_017015174.1:c.3507C>T	XP_016870663.1:p.Tyr1169=
NM_001190458.2:c.3345C>T	NP_001177387.1:p.Tyr1115=
NM_001193536.2:c.3441C>T	NP_001180465.1:p.Tyr1147=
NM_203447.4:c.3645C>T MANE Select	NP_982272.2:p.Tyr1215=