Canonical Allele Identifier: CA12945883

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 673882
• ClinVar RCV Id: RCV000833171
• dbSNP Id: rs682251
• gnomAD v2: 9-271455-T-C
• gnomAD v3: 9-271455-T-C
• gnomAD v4: 9-271455-T-C
• MyVariant Identifiers: chr9:g.271455T>C (hg19) ; chr9:g.271455T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.271455T>C , CM000671.2:g.271455T>C	GRCh38
NC_000009.11:g.271455T>C , CM000671.1:g.271455T>C	GRCh37
NC_000009.10:g.261455T>C	NCBI36
NG_017007.1:g.61591T>C , LRG_196:g.61591T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.-151-172T>C	ENSP00000371766.2:n.-151-172T>C
ENST00000682121.1:n.166-15006T>C
ENST00000684166.1:n.163-172T>C
ENST00000684384.1:n.163-172T>C
ENST00000432829.7:c.54-172T>C MANE Select	ENSP00000394888.3:n.54-172T>C
ENST00000432829.6:c.54-172T>C	ENSP00000394888.3:n.54-172T>C
ENST00000454469.6:n.163-172T>C
ENST00000469197.5:c.54-172T>C	ENSP00000418587.1:n.54-172T>C
ENST00000479404.5:c.-151-172T>C	ENSP00000417082.1:n.-151-172T>C
ENST00000524396.5:c.*17-172T>C	ENSP00000436628.1:n.*17-172T>C
NM_203447.3:c.54-172T>C , LRG_196t1:c.54-172T>C	NP_982272.2:n.54-172T>C
XM_011518047.1:c.-151-172T>C	XP_011516349.1:n.-151-172T>C
XR_929404.1:n.88+1450A>G
XR_929406.1:n.1333+2829A>G
XM_011518045.3:c.-151-172T>C	XP_011516347.1:n.-151-172T>C
XM_011518047.3:c.-151-172T>C	XP_011516349.1:n.-151-172T>C
XM_017015173.1:c.-151-172T>C	XP_016870662.1:n.-151-172T>C
NM_203447.4:c.54-172T>C MANE Select	NP_982272.2:n.54-172T>C