Canonical Allele Identifier: CA3964150

Gene: CCN6

Linked Data

• dbSNP Id: rs781898030
• ExAC: 6:112390818 C / G
• gnomAD v2: 6-112390818-C-G
• gnomAD v4: 6-112069615-C-G
• MyVariant Identifiers: chr6:g.112390818C>G (hg19) ; chr6:g.112069615C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069615C>G , CM000668.2:g.112069615C>G	GRCh38
NC_000006.11:g.112390818C>G , CM000668.1:g.112390818C>G	GRCh37
NC_000006.10:g.112497511C>G	NCBI36
NG_011748.1:g.20541C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.1060C>G MANE Select	ENSP00000357655.4:p.Leu354Val
ENST00000639360.1:c.961C>G	ENSP00000491774.1:p.Leu321Val
ENST00000230529.9:c.1060C>G	ENSP00000230529.5:p.Leu354Val
ENST00000361714.5:c.1060C>G	ENSP00000354734.2:p.Leu354Val
ENST00000368663.4:c.*366C>G	ENSP00000357652.4:n.*366C>G
ENST00000368664.7:c.*464C>G	ENSP00000357653.3:n.*464C>G
ENST00000368666.6:c.1114C>G	ENSP00000357655.3:p.Leu372Val
ENST00000409166.5:c.388C>G	ENSP00000386467.1:p.Leu130Val
ENST00000454589.5:c.*464C>G	ENSP00000395928.1:n.*464C>G
ENST00000604763.5:c.1060C>G	ENSP00000473777.1:p.Leu354Val
ENST00000613648.1:n.895C>G
ENST00000620524.3:n.991C>G
NM_003880.3:c.1060C>G	NP_003871.1:p.Leu354Val
NM_198239.1:c.1114C>G	NP_937882.1:p.Leu372Val
NR_125353.1:n.1314C>G
NR_125354.1:n.1234C>G
XM_011536220.1:c.1060C>G	XP_011534522.1:p.Leu354Val
XM_011536221.1:c.*464C>G	XP_011534523.1:n.*464C>G
XM_011536223.1:c.478C>G	XP_011534525.1:p.Leu160Val
XM_011536223.3:c.478C>G	XP_011534525.1:p.Leu160Val
XR_001743705.1:n.1662C>G
NM_003880.4:c.1060C>G	NP_003871.1:p.Leu354Val
NM_198239.2:c.1060C>G MANE Select	NP_937882.2:p.Leu354Val
NR_125353.2:n.1378C>G
NR_125354.3:n.1205C>G