Canonical Allele Identifier: CA3266875
Gene: CCNO HGNC NCBI

Linked Data

dbSNP Id: rs778844840
gnomAD v2: 5-54529298-C-G
gnomAD v3: 5-55233470-C-G
gnomAD v4: 5-55233470-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55233470C>G , CM000667.2:g.55233470C>G GRCh38
NC_000005.9:g.54529298C>G , CM000667.1:g.54529298C>G GRCh37
NC_000005.8:g.54565055C>G NCBI36
NG_034201.1:g.5248G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.54G>C MANE Select ENSP00000282572.4:p.Arg18Ser
ENST00000282572.4:c.54G>C ENSP00000282572.4:p.Arg18Ser
ENST00000501463.2:c.54G>C ENSP00000422485.1:p.Arg18Ser
NM_021147.4:c.54G>C NP_066970.3:p.Arg18Ser
NR_125346.1:n.248G>C
NR_125347.1:n.248G>C
NM_021147.5:c.54G>C MANE Select NP_066970.3:p.Arg18Ser
NR_125346.2:n.139G>C
NR_125347.2:n.139G>C