Canonical Allele Identifier: CA365376780

Gene: CCN6

Linked Data

• ClinVar Variation Id: 521955
• ClinVar RCV Id: RCV000624107 ; RCV000790883 ; RCV003558478
• dbSNP Id: rs781986930
• gnomAD v2: 6-112390768-G-A
• gnomAD v4: 6-112069565-G-A
• COSMIC: COSM4640678
• MyVariant Identifiers: chr6:g.112390768G>A (hg19) ; chr6:g.112069565G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069565G>A , CM000668.2:g.112069565G>A	GRCh38
NC_000006.11:g.112390768G>A , CM000668.1:g.112390768G>A	GRCh37
NC_000006.10:g.112497461G>A	NCBI36
NG_011748.1:g.20491G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.1010G>A MANE Select	ENSP00000357655.4:p.Cys337Tyr
ENST00000639360.1:c.911G>A	ENSP00000491774.1:p.Cys304Tyr
ENST00000230529.9:c.1010G>A	ENSP00000230529.5:p.Cys337Tyr
ENST00000361714.5:c.1010G>A	ENSP00000354734.2:p.Cys337Tyr
ENST00000368663.4:c.*316G>A	ENSP00000357652.4:n.*316G>A
ENST00000368664.7:c.*414G>A	ENSP00000357653.3:n.*414G>A
ENST00000368666.6:c.1064G>A	ENSP00000357655.3:p.Cys355Tyr
ENST00000409166.5:c.338G>A	ENSP00000386467.1:p.Cys113Tyr
ENST00000454589.5:c.*414G>A	ENSP00000395928.1:n.*414G>A
ENST00000604763.5:c.1010G>A	ENSP00000473777.1:p.Cys337Tyr
ENST00000613648.1:n.845G>A
ENST00000620524.3:n.941G>A
NM_003880.3:c.1010G>A	NP_003871.1:p.Cys337Tyr
NM_198239.1:c.1064G>A	NP_937882.1:p.Cys355Tyr
NR_125353.1:n.1264G>A
NR_125354.1:n.1184G>A
XM_011536220.1:c.1010G>A	XP_011534522.1:p.Cys337Tyr
XM_011536221.1:c.*414G>A	XP_011534523.1:n.*414G>A
XM_011536223.1:c.428G>A	XP_011534525.1:p.Cys143Tyr
XM_011536223.3:c.428G>A	XP_011534525.1:p.Cys143Tyr
XR_001743705.1:n.1612G>A
NM_003880.4:c.1010G>A	NP_003871.1:p.Cys337Tyr
NM_198239.2:c.1010G>A MANE Select	NP_937882.2:p.Cys337Tyr
NR_125353.2:n.1328G>A
NR_125354.3:n.1155G>A