Canonical Allele Identifier: CA365376251

Gene: CCN6

Linked Data

• dbSNP Id: rs1424979587
• gnomAD v3: 6-112069472-T-C
• gnomAD v4: 6-112069472-T-C
• MyVariant Identifiers: chr6:g.112390675T>C (hg19) ; chr6:g.112069472T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069472T>C , CM000668.2:g.112069472T>C	GRCh38
NC_000006.11:g.112390675T>C , CM000668.1:g.112390675T>C	GRCh37
NC_000006.10:g.112497368T>C	NCBI36
NG_011748.1:g.20398T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.917T>C MANE Select	ENSP00000357655.4:p.Ile306Thr
ENST00000639360.1:c.818T>C	ENSP00000491774.1:p.Ile273Thr
ENST00000230529.9:c.917T>C	ENSP00000230529.5:p.Ile306Thr
ENST00000361714.5:c.917T>C	ENSP00000354734.2:p.Ile306Thr
ENST00000368663.4:c.*223T>C	ENSP00000357652.4:n.*223T>C
ENST00000368664.7:c.*321T>C	ENSP00000357653.3:n.*321T>C
ENST00000368666.6:c.971T>C	ENSP00000357655.3:p.Ile324Thr
ENST00000409166.5:c.245T>C	ENSP00000386467.1:p.Ile82Thr
ENST00000454589.5:c.*321T>C	ENSP00000395928.1:n.*321T>C
ENST00000604763.5:c.917T>C	ENSP00000473777.1:p.Ile306Thr
ENST00000613648.1:n.752T>C
ENST00000620524.3:n.848T>C
NM_003880.3:c.917T>C	NP_003871.1:p.Ile306Thr
NM_198239.1:c.971T>C	NP_937882.1:p.Ile324Thr
NR_125353.1:n.1171T>C
NR_125354.1:n.1091T>C
XM_011536220.1:c.917T>C	XP_011534522.1:p.Ile306Thr
XM_011536221.1:c.*321T>C	XP_011534523.1:n.*321T>C
XM_011536223.1:c.335T>C	XP_011534525.1:p.Ile112Thr
XM_011536223.3:c.335T>C	XP_011534525.1:p.Ile112Thr
XR_001743705.1:n.1519T>C
NM_003880.4:c.917T>C	NP_003871.1:p.Ile306Thr
NM_198239.2:c.917T>C MANE Select	NP_937882.2:p.Ile306Thr
NR_125353.2:n.1235T>C
NR_125354.3:n.1062T>C