Canonical Allele Identifier: CA372763100

Gene: DOCK8

Linked Data

• dbSNP Id: rs1341851035
• gnomAD v2: 9-377017-T-A
• gnomAD v4: 9-377017-T-A
• MyVariant Identifiers: chr9:g.377017T>A (hg19) ; chr9:g.377017T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377017T>A , CM000671.2:g.377017T>A	GRCh38
NC_000009.11:g.377017T>A , CM000671.1:g.377017T>A	GRCh37
NC_000009.10:g.367017T>A	NCBI36
NG_017007.1:g.167153T>A , LRG_196:g.167153T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2042T>A	ENSP00000371766.2:p.Leu681Gln
ENST00000382331.6:n.743T>A
ENST00000483757.6:c.*933T>A	ENSP00000417691.2:n.*933T>A
ENST00000682260.1:n.2142T>A
ENST00000685949.1:n.1034T>A
ENST00000432829.7:c.2246T>A MANE Select	ENSP00000394888.3:p.Leu749Gln
ENST00000382329.1:c.647T>A	ENSP00000371766.1:p.Leu216Gln
ENST00000382331.5:c.152T>A	ENSP00000371768.1:p.Leu51Gln
ENST00000432829.6:c.2246T>A	ENSP00000394888.3:p.Leu749Gln
ENST00000453981.5:c.2042T>A	ENSP00000408464.2:p.Leu681Gln
ENST00000469391.5:c.2042T>A	ENSP00000419438.1:p.Leu681Gln
ENST00000483757.5:c.*1721T>A	ENSP00000417691.1:n.*1721T>A
ENST00000495184.5:n.4201T>A
NM_001190458.1:c.2042T>A	NP_001177387.1:p.Leu681Gln
NM_001193536.1:c.2042T>A	NP_001180465.1:p.Leu681Gln
NM_203447.3:c.2246T>A , LRG_196t1:c.2246T>A	NP_982272.2:p.Leu749Gln
XM_011518045.1:c.2042T>A	XP_011516347.1:p.Leu681Gln
XM_011518046.1:c.2108T>A	XP_011516348.1:p.Leu703Gln
XM_011518047.1:c.2042T>A	XP_011516349.1:p.Leu681Gln
XM_011518048.1:c.2042T>A	XP_011516350.1:p.Leu681Gln
XM_011518049.1:c.482T>A	XP_011516351.1:p.Leu161Gln
XM_011518045.3:c.2042T>A	XP_011516347.1:p.Leu681Gln
XM_011518046.2:c.2108T>A	XP_011516348.1:p.Leu703Gln
XM_011518047.3:c.2042T>A	XP_011516349.1:p.Leu681Gln
XM_011518048.2:c.2042T>A	XP_011516350.1:p.Leu681Gln
XM_011518049.2:c.482T>A	XP_011516351.1:p.Leu161Gln
XM_017015173.1:c.2042T>A	XP_016870662.1:p.Leu681Gln
XM_017015174.1:c.2108T>A	XP_016870663.1:p.Leu703Gln
NM_001190458.2:c.2042T>A	NP_001177387.1:p.Leu681Gln
NM_001193536.2:c.2042T>A	NP_001180465.1:p.Leu681Gln
NM_203447.4:c.2246T>A MANE Select	NP_982272.2:p.Leu749Gln