Canonical Allele Identifier: CA3964145

Gene: CCN6

Linked Data

• dbSNP Id: rs372870908
• ExAC: 6:112390785 G / C
• gnomAD v2: 6-112390785-G-C
• gnomAD v3: 6-112069582-G-C
• gnomAD v4: 6-112069582-G-C
• MyVariant Identifiers: chr6:g.112390785G>C (hg19) ; chr6:g.112069582G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069582G>C , CM000668.2:g.112069582G>C	GRCh38
NC_000006.11:g.112390785G>C , CM000668.1:g.112390785G>C	GRCh37
NC_000006.10:g.112497478G>C	NCBI36
NG_011748.1:g.20508G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.1027G>C MANE Select	ENSP00000357655.4:p.Glu343Gln
ENST00000639360.1:c.928G>C	ENSP00000491774.1:p.Glu310Gln
ENST00000230529.9:c.1027G>C	ENSP00000230529.5:p.Glu343Gln
ENST00000361714.5:c.1027G>C	ENSP00000354734.2:p.Glu343Gln
ENST00000368663.4:c.*333G>C	ENSP00000357652.4:n.*333G>C
ENST00000368664.7:c.*431G>C	ENSP00000357653.3:n.*431G>C
ENST00000368666.6:c.1081G>C	ENSP00000357655.3:p.Glu361Gln
ENST00000409166.5:c.355G>C	ENSP00000386467.1:p.Glu119Gln
ENST00000454589.5:c.*431G>C	ENSP00000395928.1:n.*431G>C
ENST00000604763.5:c.1027G>C	ENSP00000473777.1:p.Glu343Gln
ENST00000613648.1:n.862G>C
ENST00000620524.3:n.958G>C
NM_003880.3:c.1027G>C	NP_003871.1:p.Glu343Gln
NM_198239.1:c.1081G>C	NP_937882.1:p.Glu361Gln
NR_125353.1:n.1281G>C
NR_125354.1:n.1201G>C
XM_011536220.1:c.1027G>C	XP_011534522.1:p.Glu343Gln
XM_011536221.1:c.*431G>C	XP_011534523.1:n.*431G>C
XM_011536223.1:c.445G>C	XP_011534525.1:p.Glu149Gln
XM_011536223.3:c.445G>C	XP_011534525.1:p.Glu149Gln
XR_001743705.1:n.1629G>C
NM_003880.4:c.1027G>C	NP_003871.1:p.Glu343Gln
NM_198239.2:c.1027G>C MANE Select	NP_937882.2:p.Glu343Gln
NR_125353.2:n.1345G>C
NR_125354.3:n.1172G>C