Canonical Allele Identifier: CA3963918
Community Standard Title: NM_198239.2(CCN6):c.131G>A (p.Arg44His)
Gene: CCN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112061073G>A , CM000668.2:g.112061073G>A GRCh38
NC_000006.11:g.112382276G>A , CM000668.1:g.112382276G>A GRCh37
NC_000006.10:g.112488969G>A NCBI36
NG_011748.1:g.11999G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198239.2:c.131G>A MANE Select NP_937882.2:p.Arg44His
ENST00000368666.7:c.131G>A MANE Select ENSP00000357655.4:p.Arg44His
NM_003880.3:c.131G>A NP_003871.1:p.Arg44His
NM_003880.4:c.131G>A NP_003871.1:p.Arg44His
NM_198239.1:c.185G>A NP_937882.1:p.Arg62His
NR_125353.1:n.321G>A
NR_125353.2:n.385G>A
NR_125354.1:n.241G>A
NR_125354.3:n.212G>A
ENST00000230529.9:c.131G>A ENSP00000230529.5:p.Arg44His
ENST00000361714.5:c.131G>A ENSP00000354734.2:p.Arg44His
ENST00000368663.4:c.131G>A ENSP00000357652.4:p.Arg44His
ENST00000368664.7:c.185G>A ENSP00000357653.3:p.Arg62His
ENST00000368666.6:c.185G>A ENSP00000357655.3:p.Arg62His
ENST00000409166.5:c.-507-206G>A ENSP00000386467.1:n.-507-206G>A
ENST00000454589.5:c.131G>A ENSP00000395928.1:p.Arg44His
ENST00000604763.5:c.131G>A ENSP00000473777.1:p.Arg44His
ENST00000620524.3:n.65G>A
ENST00000639360.1:c.35G>A ENSP00000491774.1:p.Arg12His
XM_011536220.1:c.131G>A XP_011534522.1:p.Arg44His
XM_011536221.1:c.194G>A XP_011534523.1:p.Arg65His
XM_011536222.1:c.269G>A XP_011534524.1:p.Arg90His
XM_011536222.2:c.194G>A XP_011534524.2:p.Arg65His
XR_001743705.1:n.669G>A