Canonical Allele Identifier: CA4959272

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 536614
• ClinVar RCV Id: RCV001816602 ; RCV003424223 ; RCV003596106
• dbSNP Id: rs142208336
• ExAC: 9:434906 G / A
• gnomAD v2: 9-434906-G-A
• gnomAD v3: 9-434906-G-A
• gnomAD v4: 9-434906-G-A
• MyVariant Identifiers: chr9:g.434906G>A (hg19) ; chr9:g.434906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.434906G>A , CM000671.2:g.434906G>A	GRCh38
NC_000009.11:g.434906G>A , CM000671.1:g.434906G>A	GRCh37
NC_000009.10:g.424906G>A	NCBI36
NG_017007.1:g.225042G>A , LRG_196:g.225042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.4710G>A	ENSP00000371766.2:p.Ala1570=
ENST00000683406.1:n.1485G>A
ENST00000685949.1:n.3798G>A
ENST00000432829.7:c.5010G>A MANE Select	ENSP00000394888.3:p.Ala1670=
ENST00000382329.1:c.3411G>A	ENSP00000371766.1:p.Ala1137=
ENST00000432829.6:c.5010G>A	ENSP00000394888.3:p.Ala1670=
ENST00000453981.5:c.4806G>A	ENSP00000408464.2:p.Ala1602=
ENST00000469391.5:c.4710G>A	ENSP00000419438.1:p.Ala1570=
ENST00000495184.5:n.6965G>A
NM_001190458.1:c.4710G>A	NP_001177387.1:p.Ala1570=
NM_001193536.1:c.4806G>A	NP_001180465.1:p.Ala1602=
NM_203447.3:c.5010G>A , LRG_196t1:c.5010G>A	NP_982272.2:p.Ala1670=
XM_011518045.1:c.4710G>A	XP_011516347.1:p.Ala1570=
XM_011518046.1:c.4872G>A	XP_011516348.1:p.Ala1624=
XM_011518047.1:c.4806G>A	XP_011516349.1:p.Ala1602=
XM_011518048.1:c.4806G>A	XP_011516350.1:p.Ala1602=
XM_011518049.1:c.3246G>A	XP_011516351.1:p.Ala1082=
XM_011518045.3:c.4710G>A	XP_011516347.1:p.Ala1570=
XM_011518046.2:c.4872G>A	XP_011516348.1:p.Ala1624=
XM_011518047.3:c.4806G>A	XP_011516349.1:p.Ala1602=
XM_011518048.2:c.4806G>A	XP_011516350.1:p.Ala1602=
XM_011518049.2:c.3246G>A	XP_011516351.1:p.Ala1082=
XM_017015173.1:c.4806G>A	XP_016870662.1:p.Ala1602=
XM_017015174.1:c.4872G>A	XP_016870663.1:p.Ala1624=
NM_001190458.2:c.4710G>A	NP_001177387.1:p.Ala1570=
NM_001193536.2:c.4806G>A	NP_001180465.1:p.Ala1602=
NM_203447.4:c.5010G>A MANE Select	NP_982272.2:p.Ala1670=