Canonical Allele Identifier: CA365377016

Gene: CCN6

Linked Data

• gnomAD v4: 6-112069597-T-A
• MyVariant Identifiers: chr6:g.112390800T>A (hg19) ; chr6:g.112069597T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069597T>A , CM000668.2:g.112069597T>A	GRCh38
NC_000006.11:g.112390800T>A , CM000668.1:g.112390800T>A	GRCh37
NC_000006.10:g.112497493T>A	NCBI36
NG_011748.1:g.20523T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.1042T>A MANE Select	ENSP00000357655.4:p.Phe348Ile
ENST00000639360.1:c.943T>A	ENSP00000491774.1:p.Phe315Ile
ENST00000230529.9:c.1042T>A	ENSP00000230529.5:p.Phe348Ile
ENST00000361714.5:c.1042T>A	ENSP00000354734.2:p.Phe348Ile
ENST00000368663.4:c.*348T>A	ENSP00000357652.4:n.*348T>A
ENST00000368664.7:c.*446T>A	ENSP00000357653.3:n.*446T>A
ENST00000368666.6:c.1096T>A	ENSP00000357655.3:p.Phe366Ile
ENST00000409166.5:c.370T>A	ENSP00000386467.1:p.Phe124Ile
ENST00000454589.5:c.*446T>A	ENSP00000395928.1:n.*446T>A
ENST00000604763.5:c.1042T>A	ENSP00000473777.1:p.Phe348Ile
ENST00000613648.1:n.877T>A
ENST00000620524.3:n.973T>A
NM_003880.3:c.1042T>A	NP_003871.1:p.Phe348Ile
NM_198239.1:c.1096T>A	NP_937882.1:p.Phe366Ile
NR_125353.1:n.1296T>A
NR_125354.1:n.1216T>A
XM_011536220.1:c.1042T>A	XP_011534522.1:p.Phe348Ile
XM_011536221.1:c.*446T>A	XP_011534523.1:n.*446T>A
XM_011536223.1:c.460T>A	XP_011534525.1:p.Phe154Ile
XM_011536223.3:c.460T>A	XP_011534525.1:p.Phe154Ile
XR_001743705.1:n.1644T>A
NM_003880.4:c.1042T>A	NP_003871.1:p.Phe348Ile
NM_198239.2:c.1042T>A MANE Select	NP_937882.2:p.Phe348Ile
NR_125353.2:n.1360T>A
NR_125354.3:n.1187T>A