Canonical Allele Identifier: CA118180

Gene: CCN6

Linked Data

• ClinVar Variation Id: 6381
• ClinVar RCV Id: RCV000006753 ; RCV001196832 ; RCV001267919
• dbSNP Id: rs121908901
• ExAC: 6:112382301 C / A
• gnomAD v2: 6-112382301-C-A
• gnomAD v3: 6-112061098-C-A
• gnomAD v4: 6-112061098-C-A
• MyVariant Identifiers: chr6:g.112382301C>A (hg19) ; chr6:g.112061098C>A (hg38)
• PubMed: PMID:10471507 ; PMID:27291587 ; PMID:29092958

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112061098C>A , CM000668.2:g.112061098C>A	GRCh38
NC_000006.11:g.112382301C>A , CM000668.1:g.112382301C>A	GRCh37
NC_000006.10:g.112488994C>A	NCBI36
NG_011748.1:g.12024C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.156C>A MANE Select	ENSP00000357655.4:p.Cys52Ter
ENST00000639360.1:c.60C>A	ENSP00000491774.1:p.Cys20Ter
ENST00000230529.9:c.156C>A	ENSP00000230529.5:p.Cys52Ter
ENST00000361714.5:c.156C>A	ENSP00000354734.2:p.Cys52Ter
ENST00000368663.4:c.156C>A	ENSP00000357652.4:p.Cys52Ter
ENST00000368664.7:c.210C>A	ENSP00000357653.3:p.Cys70Ter
ENST00000368666.6:c.210C>A	ENSP00000357655.3:p.Cys70Ter
ENST00000409166.5:c.-507-181C>A	ENSP00000386467.1:n.-507-181C>A
ENST00000454589.5:c.156C>A	ENSP00000395928.1:p.Cys52Ter
ENST00000604763.5:c.156C>A	ENSP00000473777.1:p.Cys52Ter
ENST00000620524.3:n.90C>A
NM_003880.3:c.156C>A	NP_003871.1:p.Cys52Ter
NM_198239.1:c.210C>A	NP_937882.1:p.Cys70Ter
NR_125353.1:n.346C>A
NR_125354.1:n.266C>A
XM_011536220.1:c.156C>A	XP_011534522.1:p.Cys52Ter
XM_011536221.1:c.219C>A	XP_011534523.1:p.Cys73Ter
XM_011536222.1:c.294C>A	XP_011534524.1:p.Cys98Ter
XM_011536222.2:c.219C>A	XP_011534524.2:p.Cys73Ter
XR_001743705.1:n.694C>A
NM_003880.4:c.156C>A	NP_003871.1:p.Cys52Ter
NM_198239.2:c.156C>A MANE Select	NP_937882.2:p.Cys52Ter
NR_125353.2:n.410C>A
NR_125354.3:n.237C>A