Canonical Allele Identifier: CA4959648

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 1338036
• ClinVar RCV Id: RCV001822634 ; RCV002542670
• dbSNP Id: rs534366023
• ExAC: 9:452074 C / T
• gnomAD v2: 9-452074-C-T
• gnomAD v3: 9-452074-C-T
• gnomAD v4: 9-452074-C-T
• MyVariant Identifiers: chr9:g.452074C>T (hg19) ; chr9:g.452074C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452074C>T , CM000671.2:g.452074C>T	GRCh38
NC_000009.11:g.452074C>T , CM000671.1:g.452074C>T	GRCh37
NC_000009.10:g.442074C>T	NCBI36
NG_017007.1:g.242210C>T , LRG_196:g.242210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5725C>T	ENSP00000371766.2:p.His1909Tyr
ENST00000683406.1:n.2500C>T
ENST00000684637.1:n.1706C>T
ENST00000685949.1:n.4813C>T
ENST00000432829.7:c.6025C>T MANE Select	ENSP00000394888.3:p.His2009Tyr
ENST00000382329.1:c.4426C>T	ENSP00000371766.1:p.His1476Tyr
ENST00000432829.6:c.6025C>T	ENSP00000394888.3:p.His2009Tyr
ENST00000453981.5:c.5821C>T	ENSP00000408464.2:p.His1941Tyr
ENST00000469391.5:c.5725C>T	ENSP00000419438.1:p.His1909Tyr
ENST00000495184.5:n.7980C>T
NM_001190458.1:c.5725C>T	NP_001177387.1:p.His1909Tyr
NM_001193536.1:c.5821C>T	NP_001180465.1:p.His1941Tyr
NM_203447.3:c.6025C>T , LRG_196t1:c.6025C>T	NP_982272.2:p.His2009Tyr
XM_011518045.1:c.5725C>T	XP_011516347.1:p.His1909Tyr
XM_011518046.1:c.5887C>T	XP_011516348.1:p.His1963Tyr
XM_011518047.1:c.5821C>T	XP_011516349.1:p.His1941Tyr
XM_011518048.1:c.5821C>T	XP_011516350.1:p.His1941Tyr
XM_011518049.1:c.4261C>T	XP_011516351.1:p.His1421Tyr
XM_011518045.3:c.5725C>T	XP_011516347.1:p.His1909Tyr
XM_011518046.2:c.5887C>T	XP_011516348.1:p.His1963Tyr
XM_011518047.3:c.5821C>T	XP_011516349.1:p.His1941Tyr
XM_011518048.2:c.5821C>T	XP_011516350.1:p.His1941Tyr
XM_011518049.2:c.4261C>T	XP_011516351.1:p.His1421Tyr
XM_017015173.1:c.5821C>T	XP_016870662.1:p.His1941Tyr
XM_017015174.1:c.5887C>T	XP_016870663.1:p.His1963Tyr
NM_001190458.2:c.5725C>T	NP_001177387.1:p.His1909Tyr
NM_001193536.2:c.5821C>T	NP_001180465.1:p.His1941Tyr
NM_203447.4:c.6025C>T MANE Select	NP_982272.2:p.His2009Tyr