Canonical Allele Identifier: CA365369417

Gene: CCN6

Linked Data

• dbSNP Id: rs1776509475
• gnomAD v4: 6-112061181-A-C
• MyVariant Identifiers: chr6:g.112382384A>C (hg19) ; chr6:g.112061181A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112061181A>C , CM000668.2:g.112061181A>C	GRCh38
NC_000006.11:g.112382384A>C , CM000668.1:g.112382384A>C	GRCh37
NC_000006.10:g.112489077A>C	NCBI36
NG_011748.1:g.12107A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368666.7:c.239A>C MANE Select	ENSP00000357655.4:p.Lys80Thr
ENST00000639360.1:c.143A>C	ENSP00000491774.1:p.Lys48Thr
ENST00000230529.9:c.239A>C	ENSP00000230529.5:p.Lys80Thr
ENST00000361714.5:c.239A>C	ENSP00000354734.2:p.Lys80Thr
ENST00000368663.4:c.239A>C	ENSP00000357652.4:p.Lys80Thr
ENST00000368664.7:c.293A>C	ENSP00000357653.3:p.Lys98Thr
ENST00000368666.6:c.293A>C	ENSP00000357655.3:p.Lys98Thr
ENST00000409166.5:c.-507-98A>C	ENSP00000386467.1:n.-507-98A>C
ENST00000454589.5:c.239A>C	ENSP00000395928.1:p.Lys80Thr
ENST00000604763.5:c.239A>C	ENSP00000473777.1:p.Lys80Thr
ENST00000620524.3:n.173A>C
NM_003880.3:c.239A>C	NP_003871.1:p.Lys80Thr
NM_198239.1:c.293A>C	NP_937882.1:p.Lys98Thr
NR_125353.1:n.429A>C
NR_125354.1:n.349A>C
XM_011536220.1:c.239A>C	XP_011534522.1:p.Lys80Thr
XM_011536221.1:c.302A>C	XP_011534523.1:p.Lys101Thr
XM_011536222.1:c.377A>C	XP_011534524.1:p.Lys126Thr
XM_011536222.2:c.302A>C	XP_011534524.2:p.Lys101Thr
XR_001743705.1:n.777A>C
NM_003880.4:c.239A>C	NP_003871.1:p.Lys80Thr
NM_198239.2:c.239A>C MANE Select	NP_937882.2:p.Lys80Thr
NR_125353.2:n.493A>C
NR_125354.3:n.320A>C