Canonical Allele Identifier: CA4958739

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 1552223
• ClinVar RCV Id: RCV003762154
• dbSNP Id: rs372589168
• ExAC: 9:414770 T / C
• gnomAD v2: 9-414770-T-C
• gnomAD v3: 9-414770-T-C
• gnomAD v4: 9-414770-T-C
• MyVariant Identifiers: chr9:g.414770T>C (hg19) ; chr9:g.414770T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414770T>C , CM000671.2:g.414770T>C	GRCh38
NC_000009.11:g.414770T>C , CM000671.1:g.414770T>C	GRCh37
NC_000009.10:g.404770T>C	NCBI36
NG_017007.1:g.204906T>C , LRG_196:g.204906T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3231-12T>C	ENSP00000371766.2:n.3231-12T>C
ENST00000683406.1:n.52-12T>C
ENST00000685949.1:n.2319-12T>C
ENST00000432829.7:c.3531-12T>C MANE Select	ENSP00000394888.3:n.3531-12T>C
ENST00000382329.1:c.1932-12T>C	ENSP00000371766.1:n.1932-12T>C
ENST00000432829.6:c.3531-12T>C	ENSP00000394888.3:n.3531-12T>C
ENST00000453981.5:c.3327-12T>C	ENSP00000408464.2:n.3327-12T>C
ENST00000469391.5:c.3231-12T>C	ENSP00000419438.1:n.3231-12T>C
ENST00000495184.5:n.5486-12T>C
NM_001190458.1:c.3231-12T>C	NP_001177387.1:n.3231-12T>C
NM_001193536.1:c.3327-12T>C	NP_001180465.1:n.3327-12T>C
NM_203447.3:c.3531-12T>C , LRG_196t1:c.3531-12T>C	NP_982272.2:n.3531-12T>C
XM_011518045.1:c.3231-12T>C	XP_011516347.1:n.3231-12T>C
XM_011518046.1:c.3393-12T>C	XP_011516348.1:n.3393-12T>C
XM_011518047.1:c.3327-12T>C	XP_011516349.1:n.3327-12T>C
XM_011518048.1:c.3327-12T>C	XP_011516350.1:n.3327-12T>C
XM_011518049.1:c.1767-12T>C	XP_011516351.1:n.1767-12T>C
XM_011518045.3:c.3231-12T>C	XP_011516347.1:n.3231-12T>C
XM_011518046.2:c.3393-12T>C	XP_011516348.1:n.3393-12T>C
XM_011518047.3:c.3327-12T>C	XP_011516349.1:n.3327-12T>C
XM_011518048.2:c.3327-12T>C	XP_011516350.1:n.3327-12T>C
XM_011518049.2:c.1767-12T>C	XP_011516351.1:n.1767-12T>C
XM_017015173.1:c.3327-12T>C	XP_016870662.1:n.3327-12T>C
XM_017015174.1:c.3393-12T>C	XP_016870663.1:n.3393-12T>C
NM_001190458.2:c.3231-12T>C	NP_001177387.1:n.3231-12T>C
NM_001193536.2:c.3327-12T>C	NP_001180465.1:n.3327-12T>C
NM_203447.4:c.3531-12T>C MANE Select	NP_982272.2:n.3531-12T>C