Canonical Allele Identifier: CA3964094
Community Standard Title: NM_198239.2(CCN6):c.783+14A>G
Gene: CCN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112068412A>G , CM000668.2:g.112068412A>G GRCh38
NC_000006.11:g.112389615A>G , CM000668.1:g.112389615A>G GRCh37
NC_000006.10:g.112496308A>G NCBI36
NG_011748.1:g.19338A>G

Transcript Alleles

HGVS Amino-acid Change
NM_198239.2:c.783+14A>G MANE Select NP_937882.2:n.783+14A>G
ENST00000368666.7:c.783+14A>G MANE Select ENSP00000357655.4:n.783+14A>G
NM_003880.3:c.783+14A>G NP_003871.1:n.783+14A>G
NM_003880.4:c.783+14A>G NP_003871.1:n.783+14A>G
NM_198239.1:c.837+14A>G NP_937882.1:n.837+14A>G
NR_125353.1:n.1037+14A>G
NR_125353.2:n.1101+14A>G
NR_125354.1:n.957+14A>G
NR_125354.3:n.928+14A>G
ENST00000230529.9:c.783+14A>G ENSP00000230529.5:n.783+14A>G
ENST00000361714.5:c.783+14A>G ENSP00000354734.2:n.783+14A>G
ENST00000368663.4:c.*89+14A>G ENSP00000357652.4:n.*89+14A>G
ENST00000368664.7:c.*187+14A>G ENSP00000357653.3:n.*187+14A>G
ENST00000368666.6:c.837+14A>G ENSP00000357655.3:n.837+14A>G
ENST00000409166.5:c.111+14A>G ENSP00000386467.1:n.111+14A>G
ENST00000454589.5:c.*187+14A>G ENSP00000395928.1:n.*187+14A>G
ENST00000604763.5:c.783+14A>G ENSP00000473777.1:n.783+14A>G
ENST00000613648.1:n.618+14A>G
ENST00000620524.3:n.714+14A>G
ENST00000639360.1:c.684+14A>G ENSP00000491774.1:n.684+14A>G
XM_011536220.1:c.783+14A>G XP_011534522.1:n.783+14A>G
XM_011536221.1:c.*187+14A>G XP_011534523.1:n.*187+14A>G
XM_011536223.1:c.201+14A>G XP_011534525.1:n.201+14A>G
XM_011536223.3:c.201+14A>G XP_011534525.1:n.201+14A>G
XR_001743705.1:n.1385+14A>G