Canonical Allele Identifier: CA365377025

Gene: CCN6

Linked Data

• dbSNP Id: rs1554314811
• gnomAD v2: 6-112390802-T-G
• gnomAD v3: 6-112069599-T-G
• gnomAD v4: 6-112069599-T-G
• MyVariant Identifiers: chr6:g.112390802T>G (hg19) ; chr6:g.112069599T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069599T>G , CM000668.2:g.112069599T>G	GRCh38
NC_000006.11:g.112390802T>G , CM000668.1:g.112390802T>G	GRCh37
NC_000006.10:g.112497495T>G	NCBI36
NG_011748.1:g.20525T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.1044T>G MANE Select	ENSP00000357655.4:p.Phe348Leu
ENST00000639360.1:c.945T>G	ENSP00000491774.1:p.Phe315Leu
ENST00000230529.9:c.1044T>G	ENSP00000230529.5:p.Phe348Leu
ENST00000361714.5:c.1044T>G	ENSP00000354734.2:p.Phe348Leu
ENST00000368663.4:c.*350T>G	ENSP00000357652.4:n.*350T>G
ENST00000368664.7:c.*448T>G	ENSP00000357653.3:n.*448T>G
ENST00000368666.6:c.1098T>G	ENSP00000357655.3:p.Phe366Leu
ENST00000409166.5:c.372T>G	ENSP00000386467.1:p.Phe124Leu
ENST00000454589.5:c.*448T>G	ENSP00000395928.1:n.*448T>G
ENST00000604763.5:c.1044T>G	ENSP00000473777.1:p.Phe348Leu
ENST00000613648.1:n.879T>G
ENST00000620524.3:n.975T>G
NM_003880.3:c.1044T>G	NP_003871.1:p.Phe348Leu
NM_198239.1:c.1098T>G	NP_937882.1:p.Phe366Leu
NR_125353.1:n.1298T>G
NR_125354.1:n.1218T>G
XM_011536220.1:c.1044T>G	XP_011534522.1:p.Phe348Leu
XM_011536221.1:c.*448T>G	XP_011534523.1:n.*448T>G
XM_011536223.1:c.462T>G	XP_011534525.1:p.Phe154Leu
XM_011536223.3:c.462T>G	XP_011534525.1:p.Phe154Leu
XR_001743705.1:n.1646T>G
NM_003880.4:c.1044T>G	NP_003871.1:p.Phe348Leu
NM_198239.2:c.1044T>G MANE Select	NP_937882.2:p.Phe348Leu
NR_125353.2:n.1362T>G
NR_125354.3:n.1189T>G