Canonical Allele Identifier: CA3964006

Gene: CCN6

Linked Data

• ClinVar Variation Id: 500275
• ClinVar RCV Id: RCV000592704 ; RCV001510300 ; RCV003615849 ; RCV003900332
• dbSNP Id: rs35374349
• ExAC: 6:112386144 A / T
• gnomAD v2: 6-112386144-A-T
• gnomAD v3: 6-112064941-A-T
• gnomAD v4: 6-112064941-A-T
• MyVariant Identifiers: chr6:g.112386144A>T (hg19) ; chr6:g.112064941A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112064941A>T , CM000668.2:g.112064941A>T	GRCh38
NC_000006.11:g.112386144A>T , CM000668.1:g.112386144A>T	GRCh37
NC_000006.10:g.112492837A>T	NCBI36
NG_011748.1:g.15867A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368666.7:c.533A>T MANE Select	ENSP00000357655.4:p.Asn178Ile
ENST00000639360.1:c.434A>T	ENSP00000491774.1:p.Asn145Ile
ENST00000230529.9:c.533A>T	ENSP00000230529.5:p.Asn178Ile
ENST00000361714.5:c.533A>T	ENSP00000354734.2:p.Asn178Ile
ENST00000368663.4:c.533A>T	ENSP00000357652.4:p.Asn178Ile
ENST00000368664.7:c.587A>T	ENSP00000357653.3:p.Asn196Ile
ENST00000368666.6:c.587A>T	ENSP00000357655.3:p.Asn196Ile
ENST00000409166.5:c.-204A>T	ENSP00000386467.1:n.-204A>T
ENST00000454589.5:c.533A>T	ENSP00000395928.1:p.Asn178Ile
ENST00000604763.5:c.533A>T	ENSP00000473777.1:p.Asn178Ile
ENST00000613648.1:n.304A>T
ENST00000620524.3:n.464A>T
NM_003880.3:c.533A>T	NP_003871.1:p.Asn178Ile
NM_198239.1:c.587A>T	NP_937882.1:p.Asn196Ile
NR_125353.1:n.723A>T
NR_125354.1:n.643A>T
XM_011536220.1:c.533A>T	XP_011534522.1:p.Asn178Ile
XM_011536221.1:c.596A>T	XP_011534523.1:p.Asn199Ile
XM_011536222.1:c.516+155A>T	XP_011534524.1:n.516+155A>T
XM_011536223.1:c.-50A>T	XP_011534525.1:n.-50A>T
XM_011536222.2:c.441+155A>T	XP_011534524.2:n.441+155A>T
XM_011536223.3:c.-50A>T	XP_011534525.1:n.-50A>T
XR_001743705.1:n.1071A>T
NM_003880.4:c.533A>T	NP_003871.1:p.Asn178Ile
NM_198239.2:c.533A>T MANE Select	NP_937882.2:p.Asn178Ile
NR_125353.2:n.787A>T
NR_125354.3:n.614A>T