Canonical Allele Identifier: CA365374630
Community Standard Title: NM_198239.2(CCN6):c.668G>T (p.Cys223Phe)
Gene: CCN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112068283G>T , CM000668.2:g.112068283G>T GRCh38
NC_000006.11:g.112389486G>T , CM000668.1:g.112389486G>T GRCh37
NC_000006.10:g.112496179G>T NCBI36
NG_011748.1:g.19209G>T

Transcript Alleles

HGVS Amino-acid Change
NM_198239.2:c.668G>T MANE Select NP_937882.2:p.Cys223Phe
ENST00000368666.7:c.668G>T MANE Select ENSP00000357655.4:p.Cys223Phe
NM_003880.3:c.668G>T NP_003871.1:p.Cys223Phe
NM_003880.4:c.668G>T NP_003871.1:p.Cys223Phe
NM_198239.1:c.722G>T NP_937882.1:p.Cys241Phe
NR_125353.1:n.922G>T
NR_125353.2:n.986G>T
NR_125354.1:n.842G>T
NR_125354.3:n.813G>T
ENST00000230529.9:c.668G>T ENSP00000230529.5:p.Cys223Phe
ENST00000361714.5:c.668G>T ENSP00000354734.2:p.Cys223Phe
ENST00000368663.4:c.667G>T ENSP00000357652.4:p.Val223Leu
ENST00000368664.7:c.*72G>T ENSP00000357653.3:n.*72G>T
ENST00000368666.6:c.722G>T ENSP00000357655.3:p.Cys241Phe
ENST00000409166.5:c.-5G>T ENSP00000386467.1:n.-5G>T
ENST00000454589.5:c.*72G>T ENSP00000395928.1:n.*72G>T
ENST00000604763.5:c.668G>T ENSP00000473777.1:p.Cys223Phe
ENST00000613648.1:n.503G>T
ENST00000620524.3:n.599G>T
ENST00000639360.1:c.569G>T ENSP00000491774.1:p.Cys190Phe
XM_011536220.1:c.668G>T XP_011534522.1:p.Cys223Phe
XM_011536221.1:c.*72G>T XP_011534523.1:n.*72G>T
XM_011536223.1:c.86G>T XP_011534525.1:p.Cys29Phe
XM_011536223.3:c.86G>T XP_011534525.1:p.Cys29Phe
XR_001743705.1:n.1270G>T