Canonical Allele Identifier: CA3963917

Gene: CCN6

Linked Data

• ClinVar Variation Id: 716637
• ClinVar RCV Id: RCV000889312
• dbSNP Id: rs137881483
• ExAC: 6:112382275 C / T
• gnomAD v2: 6-112382275-C-T
• gnomAD v3: 6-112061072-C-T
• gnomAD v4: 6-112061072-C-T
• MyVariant Identifiers: chr6:g.112382275C>T (hg19) ; chr6:g.112061072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112061072C>T , CM000668.2:g.112061072C>T	GRCh38
NC_000006.11:g.112382275C>T , CM000668.1:g.112382275C>T	GRCh37
NC_000006.10:g.112488968C>T	NCBI36
NG_011748.1:g.11998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.130C>T MANE Select	ENSP00000357655.4:p.Arg44Cys
ENST00000639360.1:c.34C>T	ENSP00000491774.1:p.Arg12Cys
ENST00000230529.9:c.130C>T	ENSP00000230529.5:p.Arg44Cys
ENST00000361714.5:c.130C>T	ENSP00000354734.2:p.Arg44Cys
ENST00000368663.4:c.130C>T	ENSP00000357652.4:p.Arg44Cys
ENST00000368664.7:c.184C>T	ENSP00000357653.3:p.Arg62Cys
ENST00000368666.6:c.184C>T	ENSP00000357655.3:p.Arg62Cys
ENST00000409166.5:c.-507-207C>T	ENSP00000386467.1:n.-507-207C>T
ENST00000454589.5:c.130C>T	ENSP00000395928.1:p.Arg44Cys
ENST00000604763.5:c.130C>T	ENSP00000473777.1:p.Arg44Cys
ENST00000620524.3:n.64C>T
NM_003880.3:c.130C>T	NP_003871.1:p.Arg44Cys
NM_198239.1:c.184C>T	NP_937882.1:p.Arg62Cys
NR_125353.1:n.320C>T
NR_125354.1:n.240C>T
XM_011536220.1:c.130C>T	XP_011534522.1:p.Arg44Cys
XM_011536221.1:c.193C>T	XP_011534523.1:p.Arg65Cys
XM_011536222.1:c.268C>T	XP_011534524.1:p.Arg90Cys
XM_011536222.2:c.193C>T	XP_011534524.2:p.Arg65Cys
XR_001743705.1:n.668C>T
NM_003880.4:c.130C>T	NP_003871.1:p.Arg44Cys
NM_198239.2:c.130C>T MANE Select	NP_937882.2:p.Arg44Cys
NR_125353.2:n.384C>T
NR_125354.3:n.211C>T