Canonical Allele Identifier: CA444396873
Gene: CCNO HGNC NCBI

Linked Data

dbSNP Id: rs1484897953
gnomAD v2: 5-54527467-C-G
gnomAD v4: 5-55231639-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55231639C>G , CM000667.2:g.55231639C>G GRCh38
NC_000005.9:g.54527467C>G , CM000667.1:g.54527467C>G GRCh37
NC_000005.8:g.54563224C>G NCBI36
NG_034201.1:g.7079G>C
NG_051620.1:g.677G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.789G>C MANE Select ENSP00000282572.4:p.Arg263=
ENST00000282572.4:c.789G>C ENSP00000282572.4:p.Arg263=
ENST00000501463.2:c.*769G>C ENSP00000422485.1:n.*769G>C
NM_021147.4:c.789G>C NP_066970.3:p.Arg263=
NR_125346.1:n.1359G>C
NR_125347.1:n.988G>C
NR_125348.1:n.853G>C
NM_021147.5:c.789G>C MANE Select NP_066970.3:p.Arg263=
NR_125346.2:n.1250G>C
NR_125347.2:n.879G>C