Canonical Allele Identifier: CA365377010

Gene: CCN6

Linked Data

• gnomAD v4: 6-112069595-T-G
• MyVariant Identifiers: chr6:g.112390798T>G (hg19) ; chr6:g.112069595T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069595T>G , CM000668.2:g.112069595T>G	GRCh38
NC_000006.11:g.112390798T>G , CM000668.1:g.112390798T>G	GRCh37
NC_000006.10:g.112497491T>G	NCBI36
NG_011748.1:g.20521T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.1040T>G MANE Select	ENSP00000357655.4:p.Ile347Arg
ENST00000639360.1:c.941T>G	ENSP00000491774.1:p.Ile314Arg
ENST00000230529.9:c.1040T>G	ENSP00000230529.5:p.Ile347Arg
ENST00000361714.5:c.1040T>G	ENSP00000354734.2:p.Ile347Arg
ENST00000368663.4:c.*346T>G	ENSP00000357652.4:n.*346T>G
ENST00000368664.7:c.*444T>G	ENSP00000357653.3:n.*444T>G
ENST00000368666.6:c.1094T>G	ENSP00000357655.3:p.Ile365Arg
ENST00000409166.5:c.368T>G	ENSP00000386467.1:p.Ile123Arg
ENST00000454589.5:c.*444T>G	ENSP00000395928.1:n.*444T>G
ENST00000604763.5:c.1040T>G	ENSP00000473777.1:p.Ile347Arg
ENST00000613648.1:n.875T>G
ENST00000620524.3:n.971T>G
NM_003880.3:c.1040T>G	NP_003871.1:p.Ile347Arg
NM_198239.1:c.1094T>G	NP_937882.1:p.Ile365Arg
NR_125353.1:n.1294T>G
NR_125354.1:n.1214T>G
XM_011536220.1:c.1040T>G	XP_011534522.1:p.Ile347Arg
XM_011536221.1:c.*444T>G	XP_011534523.1:n.*444T>G
XM_011536223.1:c.458T>G	XP_011534525.1:p.Ile153Arg
XM_011536223.3:c.458T>G	XP_011534525.1:p.Ile153Arg
XR_001743705.1:n.1642T>G
NM_003880.4:c.1040T>G	NP_003871.1:p.Ile347Arg
NM_198239.2:c.1040T>G MANE Select	NP_937882.2:p.Ile347Arg
NR_125353.2:n.1358T>G
NR_125354.3:n.1185T>G