Canonical Allele Identifier: CA3964136

Gene: CCN6

Linked Data

• dbSNP Id: rs782329148
• ExAC: 6:112390755 A / G
• gnomAD v2: 6-112390755-A-G
• gnomAD v4: 6-112069552-A-G
• MyVariant Identifiers: chr6:g.112390755A>G (hg19) ; chr6:g.112069552A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069552A>G , CM000668.2:g.112069552A>G	GRCh38
NC_000006.11:g.112390755A>G , CM000668.1:g.112390755A>G	GRCh37
NC_000006.10:g.112497448A>G	NCBI36
NG_011748.1:g.20478A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.997A>G MANE Select	ENSP00000357655.4:p.Thr333Ala
ENST00000639360.1:c.898A>G	ENSP00000491774.1:p.Thr300Ala
ENST00000230529.9:c.997A>G	ENSP00000230529.5:p.Thr333Ala
ENST00000361714.5:c.997A>G	ENSP00000354734.2:p.Thr333Ala
ENST00000368663.4:c.*303A>G	ENSP00000357652.4:n.*303A>G
ENST00000368664.7:c.*401A>G	ENSP00000357653.3:n.*401A>G
ENST00000368666.6:c.1051A>G	ENSP00000357655.3:p.Thr351Ala
ENST00000409166.5:c.325A>G	ENSP00000386467.1:p.Thr109Ala
ENST00000454589.5:c.*401A>G	ENSP00000395928.1:n.*401A>G
ENST00000604763.5:c.997A>G	ENSP00000473777.1:p.Thr333Ala
ENST00000613648.1:n.832A>G
ENST00000620524.3:n.928A>G
NM_003880.3:c.997A>G	NP_003871.1:p.Thr333Ala
NM_198239.1:c.1051A>G	NP_937882.1:p.Thr351Ala
NR_125353.1:n.1251A>G
NR_125354.1:n.1171A>G
XM_011536220.1:c.997A>G	XP_011534522.1:p.Thr333Ala
XM_011536221.1:c.*401A>G	XP_011534523.1:n.*401A>G
XM_011536223.1:c.415A>G	XP_011534525.1:p.Thr139Ala
XM_011536223.3:c.415A>G	XP_011534525.1:p.Thr139Ala
XR_001743705.1:n.1599A>G
NM_003880.4:c.997A>G	NP_003871.1:p.Thr333Ala
NM_198239.2:c.997A>G MANE Select	NP_937882.2:p.Thr333Ala
NR_125353.2:n.1315A>G
NR_125354.3:n.1142A>G