Canonical Allele Identifier: CA4958766

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 380623
• ClinVar RCV Id: RCV000442299 ; RCV003595964
• dbSNP Id: rs745506610
• ExAC: 9:414887 C / T
• gnomAD v2: 9-414887-C-T
• gnomAD v3: 9-414887-C-T
• gnomAD v4: 9-414887-C-T
• COSMIC: COSM4386963 ; COSM4386964
• MyVariant Identifiers: chr9:g.414887C>T (hg19) ; chr9:g.414887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414887C>T , CM000671.2:g.414887C>T	GRCh38
NC_000009.11:g.414887C>T , CM000671.1:g.414887C>T	GRCh37
NC_000009.10:g.404887C>T	NCBI36
NG_017007.1:g.205023C>T , LRG_196:g.205023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3336C>T	ENSP00000371766.2:p.Ala1112=
ENST00000683406.1:n.157C>T
ENST00000685949.1:n.2424C>T
ENST00000432829.7:c.3636C>T MANE Select	ENSP00000394888.3:p.Ala1212=
ENST00000382329.1:c.2037C>T	ENSP00000371766.1:p.Ala679=
ENST00000432829.6:c.3636C>T	ENSP00000394888.3:p.Ala1212=
ENST00000453981.5:c.3432C>T	ENSP00000408464.2:p.Ala1144=
ENST00000469391.5:c.3336C>T	ENSP00000419438.1:p.Ala1112=
ENST00000495184.5:n.5591C>T
NM_001190458.1:c.3336C>T	NP_001177387.1:p.Ala1112=
NM_001193536.1:c.3432C>T	NP_001180465.1:p.Ala1144=
NM_203447.3:c.3636C>T , LRG_196t1:c.3636C>T	NP_982272.2:p.Ala1212=
XM_011518045.1:c.3336C>T	XP_011516347.1:p.Ala1112=
XM_011518046.1:c.3498C>T	XP_011516348.1:p.Ala1166=
XM_011518047.1:c.3432C>T	XP_011516349.1:p.Ala1144=
XM_011518048.1:c.3432C>T	XP_011516350.1:p.Ala1144=
XM_011518049.1:c.1872C>T	XP_011516351.1:p.Ala624=
XM_011518045.3:c.3336C>T	XP_011516347.1:p.Ala1112=
XM_011518046.2:c.3498C>T	XP_011516348.1:p.Ala1166=
XM_011518047.3:c.3432C>T	XP_011516349.1:p.Ala1144=
XM_011518048.2:c.3432C>T	XP_011516350.1:p.Ala1144=
XM_011518049.2:c.1872C>T	XP_011516351.1:p.Ala624=
XM_017015173.1:c.3432C>T	XP_016870662.1:p.Ala1144=
XM_017015174.1:c.3498C>T	XP_016870663.1:p.Ala1166=
NM_001190458.2:c.3336C>T	NP_001177387.1:p.Ala1112=
NM_001193536.2:c.3432C>T	NP_001180465.1:p.Ala1144=
NM_203447.4:c.3636C>T MANE Select	NP_982272.2:p.Ala1212=