Canonical Allele Identifier: CA3266690
Gene: CCNO HGNC NCBI

Linked Data

dbSNP Id: rs751935023
gnomAD v2: 5-54527496-C-T
gnomAD v3: 5-55231668-C-T
gnomAD v4: 5-55231668-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55231668C>T , CM000667.2:g.55231668C>T GRCh38
NC_000005.9:g.54527496C>T , CM000667.1:g.54527496C>T GRCh37
NC_000005.8:g.54563253C>T NCBI36
NG_034201.1:g.7050G>A
NG_051620.1:g.648G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.760G>A MANE Select ENSP00000282572.4:p.Glu254Lys
ENST00000282572.4:c.760G>A ENSP00000282572.4:p.Glu254Lys
ENST00000501463.2:c.*740G>A ENSP00000422485.1:n.*740G>A
NM_021147.4:c.760G>A NP_066970.3:p.Glu254Lys
NR_125346.1:n.1330G>A
NR_125347.1:n.959G>A
NR_125348.1:n.824G>A
NM_021147.5:c.760G>A MANE Select NP_066970.3:p.Glu254Lys
NR_125346.2:n.1221G>A
NR_125347.2:n.850G>A