Canonical Allele Identifier: CA118183

Gene: CCN6

Linked Data

• ClinVar Variation Id: 6388
• ClinVar RCV Id: RCV000006760 ; RCV003555946
• dbSNP Id: rs121908903
• MyVariant Identifiers: chr6:g.112390758T>C (hg19) ; chr6:g.112069555T>C (hg38)
• PubMed: PMID:15300987

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069555T>C , CM000668.2:g.112069555T>C	GRCh38
NC_000006.11:g.112390758T>C , CM000668.1:g.112390758T>C	GRCh37
NC_000006.10:g.112497451T>C	NCBI36
NG_011748.1:g.20481T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.1000T>C MANE Select	ENSP00000357655.4:p.Ser334Pro
ENST00000639360.1:c.901T>C	ENSP00000491774.1:p.Ser301Pro
ENST00000230529.9:c.1000T>C	ENSP00000230529.5:p.Ser334Pro
ENST00000361714.5:c.1000T>C	ENSP00000354734.2:p.Ser334Pro
ENST00000368663.4:c.*306T>C	ENSP00000357652.4:n.*306T>C
ENST00000368664.7:c.*404T>C	ENSP00000357653.3:n.*404T>C
ENST00000368666.6:c.1054T>C	ENSP00000357655.3:p.Ser352Pro
ENST00000409166.5:c.328T>C	ENSP00000386467.1:p.Ser110Pro
ENST00000454589.5:c.*404T>C	ENSP00000395928.1:n.*404T>C
ENST00000604763.5:c.1000T>C	ENSP00000473777.1:p.Ser334Pro
ENST00000613648.1:n.835T>C
ENST00000620524.3:n.931T>C
NM_003880.3:c.1000T>C	NP_003871.1:p.Ser334Pro
NM_198239.1:c.1054T>C	NP_937882.1:p.Ser352Pro
NR_125353.1:n.1254T>C
NR_125354.1:n.1174T>C
XM_011536220.1:c.1000T>C	XP_011534522.1:p.Ser334Pro
XM_011536221.1:c.*404T>C	XP_011534523.1:n.*404T>C
XM_011536223.1:c.418T>C	XP_011534525.1:p.Ser140Pro
XM_011536223.3:c.418T>C	XP_011534525.1:p.Ser140Pro
XR_001743705.1:n.1602T>C
NM_003880.4:c.1000T>C	NP_003871.1:p.Ser334Pro
NM_198239.2:c.1000T>C MANE Select	NP_937882.2:p.Ser334Pro
NR_125353.2:n.1318T>C
NR_125354.3:n.1145T>C