Canonical Allele Identifier: CA4958178

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 577327
• ClinVar RCV Id: RCV000700047 ; RCV003596526 ; RCV004026498
• dbSNP Id: rs369449324
• ExAC: 9:377154 G / C
• gnomAD v2: 9-377154-G-C
• gnomAD v3: 9-377154-G-C
• gnomAD v4: 9-377154-G-C
• MyVariant Identifiers: chr9:g.377154G>C (hg19) ; chr9:g.377154G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377154G>C , CM000671.2:g.377154G>C	GRCh38
NC_000009.11:g.377154G>C , CM000671.1:g.377154G>C	GRCh37
NC_000009.10:g.367154G>C	NCBI36
NG_017007.1:g.167290G>C , LRG_196:g.167290G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2179G>C	ENSP00000371766.2:p.Val727Leu
ENST00000382331.6:n.880G>C
ENST00000483757.6:c.*1070G>C	ENSP00000417691.2:n.*1070G>C
ENST00000682260.1:n.2279G>C
ENST00000685949.1:n.1171G>C
ENST00000432829.7:c.2383G>C MANE Select	ENSP00000394888.3:p.Val795Leu
ENST00000382329.1:c.784G>C	ENSP00000371766.1:p.Val262Leu
ENST00000382331.5:c.289G>C	ENSP00000371768.1:p.Val97Leu
ENST00000432829.6:c.2383G>C	ENSP00000394888.3:p.Val795Leu
ENST00000453981.5:c.2179G>C	ENSP00000408464.2:p.Val727Leu
ENST00000469391.5:c.2179G>C	ENSP00000419438.1:p.Val727Leu
ENST00000483757.5:c.*1858G>C	ENSP00000417691.1:n.*1858G>C
ENST00000495184.5:n.4338G>C
NM_001190458.1:c.2179G>C	NP_001177387.1:p.Val727Leu
NM_001193536.1:c.2179G>C	NP_001180465.1:p.Val727Leu
NM_203447.3:c.2383G>C , LRG_196t1:c.2383G>C	NP_982272.2:p.Val795Leu
XM_011518045.1:c.2179G>C	XP_011516347.1:p.Val727Leu
XM_011518046.1:c.2245G>C	XP_011516348.1:p.Val749Leu
XM_011518047.1:c.2179G>C	XP_011516349.1:p.Val727Leu
XM_011518048.1:c.2179G>C	XP_011516350.1:p.Val727Leu
XM_011518049.1:c.619G>C	XP_011516351.1:p.Val207Leu
XM_011518045.3:c.2179G>C	XP_011516347.1:p.Val727Leu
XM_011518046.2:c.2245G>C	XP_011516348.1:p.Val749Leu
XM_011518047.3:c.2179G>C	XP_011516349.1:p.Val727Leu
XM_011518048.2:c.2179G>C	XP_011516350.1:p.Val727Leu
XM_011518049.2:c.619G>C	XP_011516351.1:p.Val207Leu
XM_017015173.1:c.2179G>C	XP_016870662.1:p.Val727Leu
XM_017015174.1:c.2245G>C	XP_016870663.1:p.Val749Leu
NM_001190458.2:c.2179G>C	NP_001177387.1:p.Val727Leu
NM_001193536.2:c.2179G>C	NP_001180465.1:p.Val727Leu
NM_203447.4:c.2383G>C MANE Select	NP_982272.2:p.Val795Leu