Canonical Allele Identifier: CA365377002

Gene: CCN6

Linked Data

• MyVariant Identifiers: chr6:g.112390797A>C (hg19) ; chr6:g.112069594A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069594A>C , CM000668.2:g.112069594A>C	GRCh38
NC_000006.11:g.112390797A>C , CM000668.1:g.112390797A>C	GRCh37
NC_000006.10:g.112497490A>C	NCBI36
NG_011748.1:g.20520A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.1039A>C MANE Select	ENSP00000357655.4:p.Ile347Leu
ENST00000639360.1:c.940A>C	ENSP00000491774.1:p.Ile314Leu
ENST00000230529.9:c.1039A>C	ENSP00000230529.5:p.Ile347Leu
ENST00000361714.5:c.1039A>C	ENSP00000354734.2:p.Ile347Leu
ENST00000368663.4:c.*345A>C	ENSP00000357652.4:n.*345A>C
ENST00000368664.7:c.*443A>C	ENSP00000357653.3:n.*443A>C
ENST00000368666.6:c.1093A>C	ENSP00000357655.3:p.Ile365Leu
ENST00000409166.5:c.367A>C	ENSP00000386467.1:p.Ile123Leu
ENST00000454589.5:c.*443A>C	ENSP00000395928.1:n.*443A>C
ENST00000604763.5:c.1039A>C	ENSP00000473777.1:p.Ile347Leu
ENST00000613648.1:n.874A>C
ENST00000620524.3:n.970A>C
NM_003880.3:c.1039A>C	NP_003871.1:p.Ile347Leu
NM_198239.1:c.1093A>C	NP_937882.1:p.Ile365Leu
NR_125353.1:n.1293A>C
NR_125354.1:n.1213A>C
XM_011536220.1:c.1039A>C	XP_011534522.1:p.Ile347Leu
XM_011536221.1:c.*443A>C	XP_011534523.1:n.*443A>C
XM_011536223.1:c.457A>C	XP_011534525.1:p.Ile153Leu
XM_011536223.3:c.457A>C	XP_011534525.1:p.Ile153Leu
XR_001743705.1:n.1641A>C
NM_003880.4:c.1039A>C	NP_003871.1:p.Ile347Leu
NM_198239.2:c.1039A>C MANE Select	NP_937882.2:p.Ile347Leu
NR_125353.2:n.1357A>C
NR_125354.3:n.1184A>C