Canonical Allele Identifier: CA463701267

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 1906695
• ClinVar RCV Id: RCV003776598
• dbSNP Id: rs1257449085
• gnomAD v2: 9-452052-T-G
• gnomAD v4: 9-452052-T-G
• MyVariant Identifiers: chr9:g.452052T>G (hg19) ; chr9:g.452052T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452052T>G , CM000671.2:g.452052T>G	GRCh38
NC_000009.11:g.452052T>G , CM000671.1:g.452052T>G	GRCh37
NC_000009.10:g.442052T>G	NCBI36
NG_017007.1:g.242188T>G , LRG_196:g.242188T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5703T>G	ENSP00000371766.2:p.Pro1901=
ENST00000683406.1:n.2478T>G
ENST00000684637.1:n.1684T>G
ENST00000685949.1:n.4791T>G
ENST00000432829.7:c.6003T>G MANE Select	ENSP00000394888.3:p.Pro2001=
ENST00000382329.1:c.4404T>G	ENSP00000371766.1:p.Pro1468=
ENST00000432829.6:c.6003T>G	ENSP00000394888.3:p.Pro2001=
ENST00000453981.5:c.5799T>G	ENSP00000408464.2:p.Pro1933=
ENST00000469391.5:c.5703T>G	ENSP00000419438.1:p.Pro1901=
ENST00000495184.5:n.7958T>G
NM_001190458.1:c.5703T>G	NP_001177387.1:p.Pro1901=
NM_001193536.1:c.5799T>G	NP_001180465.1:p.Pro1933=
NM_203447.3:c.6003T>G , LRG_196t1:c.6003T>G	NP_982272.2:p.Pro2001=
XM_011518045.1:c.5703T>G	XP_011516347.1:p.Pro1901=
XM_011518046.1:c.5865T>G	XP_011516348.1:p.Pro1955=
XM_011518047.1:c.5799T>G	XP_011516349.1:p.Pro1933=
XM_011518048.1:c.5799T>G	XP_011516350.1:p.Pro1933=
XM_011518049.1:c.4239T>G	XP_011516351.1:p.Pro1413=
XM_011518045.3:c.5703T>G	XP_011516347.1:p.Pro1901=
XM_011518046.2:c.5865T>G	XP_011516348.1:p.Pro1955=
XM_011518047.3:c.5799T>G	XP_011516349.1:p.Pro1933=
XM_011518048.2:c.5799T>G	XP_011516350.1:p.Pro1933=
XM_011518049.2:c.4239T>G	XP_011516351.1:p.Pro1413=
XM_017015173.1:c.5799T>G	XP_016870662.1:p.Pro1933=
XM_017015174.1:c.5865T>G	XP_016870663.1:p.Pro1955=
NM_001190458.2:c.5703T>G	NP_001177387.1:p.Pro1901=
NM_001193536.2:c.5799T>G	NP_001180465.1:p.Pro1933=
NM_203447.4:c.6003T>G MANE Select	NP_982272.2:p.Pro2001=