Canonical Allele Identifier: CA3964141

Gene: CCN6

Linked Data

• ClinVar Variation Id: 1704535
• ClinVar RCV Id: RCV002282862
• dbSNP Id: rs587640965
• ExAC: 6:112390771 A / T
• gnomAD v2: 6-112390771-A-T
• gnomAD v3: 6-112069568-A-T
• gnomAD v4: 6-112069568-A-T
• MyVariant Identifiers: chr6:g.112390771A>T (hg19) ; chr6:g.112069568A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069568A>T , CM000668.2:g.112069568A>T	GRCh38
NC_000006.11:g.112390771A>T , CM000668.1:g.112390771A>T	GRCh37
NC_000006.10:g.112497464A>T	NCBI36
NG_011748.1:g.20494A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.1013A>T MANE Select	ENSP00000357655.4:p.Gln338Leu
ENST00000639360.1:c.914A>T	ENSP00000491774.1:p.Gln305Leu
ENST00000230529.9:c.1013A>T	ENSP00000230529.5:p.Gln338Leu
ENST00000361714.5:c.1013A>T	ENSP00000354734.2:p.Gln338Leu
ENST00000368663.4:c.*319A>T	ENSP00000357652.4:n.*319A>T
ENST00000368664.7:c.*417A>T	ENSP00000357653.3:n.*417A>T
ENST00000368666.6:c.1067A>T	ENSP00000357655.3:p.Gln356Leu
ENST00000409166.5:c.341A>T	ENSP00000386467.1:p.Gln114Leu
ENST00000454589.5:c.*417A>T	ENSP00000395928.1:n.*417A>T
ENST00000604763.5:c.1013A>T	ENSP00000473777.1:p.Gln338Leu
ENST00000613648.1:n.848A>T
ENST00000620524.3:n.944A>T
NM_003880.3:c.1013A>T	NP_003871.1:p.Gln338Leu
NM_198239.1:c.1067A>T	NP_937882.1:p.Gln356Leu
NR_125353.1:n.1267A>T
NR_125354.1:n.1187A>T
XM_011536220.1:c.1013A>T	XP_011534522.1:p.Gln338Leu
XM_011536221.1:c.*417A>T	XP_011534523.1:n.*417A>T
XM_011536223.1:c.431A>T	XP_011534525.1:p.Gln144Leu
XM_011536223.3:c.431A>T	XP_011534525.1:p.Gln144Leu
XR_001743705.1:n.1615A>T
NM_003880.4:c.1013A>T	NP_003871.1:p.Gln338Leu
NM_198239.2:c.1013A>T MANE Select	NP_937882.2:p.Gln338Leu
NR_125353.2:n.1331A>T
NR_125354.3:n.1158A>T