Canonical Allele Identifier: CA365376964

Gene: CCN6

Linked Data

• dbSNP Id: rs1279000757
• gnomAD v3: 6-112069586-C-G
• gnomAD v4: 6-112069586-C-G
• MyVariant Identifiers: chr6:g.112390789C>G (hg19) ; chr6:g.112069586C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069586C>G , CM000668.2:g.112069586C>G	GRCh38
NC_000006.11:g.112390789C>G , CM000668.1:g.112390789C>G	GRCh37
NC_000006.10:g.112497482C>G	NCBI36
NG_011748.1:g.20512C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.1031C>G MANE Select	ENSP00000357655.4:p.Pro344Arg
ENST00000639360.1:c.932C>G	ENSP00000491774.1:p.Pro311Arg
ENST00000230529.9:c.1031C>G	ENSP00000230529.5:p.Pro344Arg
ENST00000361714.5:c.1031C>G	ENSP00000354734.2:p.Pro344Arg
ENST00000368663.4:c.*337C>G	ENSP00000357652.4:n.*337C>G
ENST00000368664.7:c.*435C>G	ENSP00000357653.3:n.*435C>G
ENST00000368666.6:c.1085C>G	ENSP00000357655.3:p.Pro362Arg
ENST00000409166.5:c.359C>G	ENSP00000386467.1:p.Pro120Arg
ENST00000454589.5:c.*435C>G	ENSP00000395928.1:n.*435C>G
ENST00000604763.5:c.1031C>G	ENSP00000473777.1:p.Pro344Arg
ENST00000613648.1:n.866C>G
ENST00000620524.3:n.962C>G
NM_003880.3:c.1031C>G	NP_003871.1:p.Pro344Arg
NM_198239.1:c.1085C>G	NP_937882.1:p.Pro362Arg
NR_125353.1:n.1285C>G
NR_125354.1:n.1205C>G
XM_011536220.1:c.1031C>G	XP_011534522.1:p.Pro344Arg
XM_011536221.1:c.*435C>G	XP_011534523.1:n.*435C>G
XM_011536223.1:c.449C>G	XP_011534525.1:p.Pro150Arg
XM_011536223.3:c.449C>G	XP_011534525.1:p.Pro150Arg
XR_001743705.1:n.1633C>G
NM_003880.4:c.1031C>G	NP_003871.1:p.Pro344Arg
NM_198239.2:c.1031C>G MANE Select	NP_937882.2:p.Pro344Arg
NR_125353.2:n.1349C>G
NR_125354.3:n.1176C>G