Canonical Allele Identifier: CA3964139

Gene: CCN6

Linked Data

• dbSNP Id: rs782395830
• ExAC: 6:112390767 T / C
• gnomAD v2: 6-112390767-T-C
• gnomAD v4: 6-112069564-T-C
• MyVariant Identifiers: chr6:g.112390767T>C (hg19) ; chr6:g.112069564T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069564T>C , CM000668.2:g.112069564T>C	GRCh38
NC_000006.11:g.112390767T>C , CM000668.1:g.112390767T>C	GRCh37
NC_000006.10:g.112497460T>C	NCBI36
NG_011748.1:g.20490T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.1009T>C MANE Select	ENSP00000357655.4:p.Cys337Arg
ENST00000639360.1:c.910T>C	ENSP00000491774.1:p.Cys304Arg
ENST00000230529.9:c.1009T>C	ENSP00000230529.5:p.Cys337Arg
ENST00000361714.5:c.1009T>C	ENSP00000354734.2:p.Cys337Arg
ENST00000368663.4:c.*315T>C	ENSP00000357652.4:n.*315T>C
ENST00000368664.7:c.*413T>C	ENSP00000357653.3:n.*413T>C
ENST00000368666.6:c.1063T>C	ENSP00000357655.3:p.Cys355Arg
ENST00000409166.5:c.337T>C	ENSP00000386467.1:p.Cys113Arg
ENST00000454589.5:c.*413T>C	ENSP00000395928.1:n.*413T>C
ENST00000604763.5:c.1009T>C	ENSP00000473777.1:p.Cys337Arg
ENST00000613648.1:n.844T>C
ENST00000620524.3:n.940T>C
NM_003880.3:c.1009T>C	NP_003871.1:p.Cys337Arg
NM_198239.1:c.1063T>C	NP_937882.1:p.Cys355Arg
NR_125353.1:n.1263T>C
NR_125354.1:n.1183T>C
XM_011536220.1:c.1009T>C	XP_011534522.1:p.Cys337Arg
XM_011536221.1:c.*413T>C	XP_011534523.1:n.*413T>C
XM_011536223.1:c.427T>C	XP_011534525.1:p.Cys143Arg
XM_011536223.3:c.427T>C	XP_011534525.1:p.Cys143Arg
XR_001743705.1:n.1611T>C
NM_003880.4:c.1009T>C	NP_003871.1:p.Cys337Arg
NM_198239.2:c.1009T>C MANE Select	NP_937882.2:p.Cys337Arg
NR_125353.2:n.1327T>C
NR_125354.3:n.1154T>C