Canonical Allele Identifier: CA365376393

Gene: CCN6

Linked Data

• MyVariant Identifiers: chr6:g.112390705A>T (hg19) ; chr6:g.112069502A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069502A>T , CM000668.2:g.112069502A>T	GRCh38
NC_000006.11:g.112390705A>T , CM000668.1:g.112390705A>T	GRCh37
NC_000006.10:g.112497398A>T	NCBI36
NG_011748.1:g.20428A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.947A>T MANE Select	ENSP00000357655.4:p.Gln316Leu
ENST00000639360.1:c.848A>T	ENSP00000491774.1:p.Gln283Leu
ENST00000230529.9:c.947A>T	ENSP00000230529.5:p.Gln316Leu
ENST00000361714.5:c.947A>T	ENSP00000354734.2:p.Gln316Leu
ENST00000368663.4:c.*253A>T	ENSP00000357652.4:n.*253A>T
ENST00000368664.7:c.*351A>T	ENSP00000357653.3:n.*351A>T
ENST00000368666.6:c.1001A>T	ENSP00000357655.3:p.Gln334Leu
ENST00000409166.5:c.275A>T	ENSP00000386467.1:p.Gln92Leu
ENST00000454589.5:c.*351A>T	ENSP00000395928.1:n.*351A>T
ENST00000604763.5:c.947A>T	ENSP00000473777.1:p.Gln316Leu
ENST00000613648.1:n.782A>T
ENST00000620524.3:n.878A>T
NM_003880.3:c.947A>T	NP_003871.1:p.Gln316Leu
NM_198239.1:c.1001A>T	NP_937882.1:p.Gln334Leu
NR_125353.1:n.1201A>T
NR_125354.1:n.1121A>T
XM_011536220.1:c.947A>T	XP_011534522.1:p.Gln316Leu
XM_011536221.1:c.*351A>T	XP_011534523.1:n.*351A>T
XM_011536223.1:c.365A>T	XP_011534525.1:p.Gln122Leu
XM_011536223.3:c.365A>T	XP_011534525.1:p.Gln122Leu
XR_001743705.1:n.1549A>T
NM_003880.4:c.947A>T	NP_003871.1:p.Gln316Leu
NM_198239.2:c.947A>T MANE Select	NP_937882.2:p.Gln316Leu
NR_125353.2:n.1265A>T
NR_125354.3:n.1092A>T