Canonical Allele Identifier: CA444396969
Gene: CCNO HGNC NCBI

Linked Data

ClinVar Variation Id: 2861474
ClinVar RCV Id: RCV003653813
gnomAD v4: 5-55233277-G-A
MyVariant Identifiers: chr5:g.54529105G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55233277G>A , CM000667.2:g.55233277G>A GRCh38
NC_000005.9:g.54529105G>A , CM000667.1:g.54529105G>A GRCh37
NC_000005.8:g.54564862G>A NCBI36
NG_034201.1:g.5441C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.247C>T MANE Select ENSP00000282572.4:p.Leu83=
ENST00000282572.4:c.247C>T ENSP00000282572.4:p.Leu83=
ENST00000501463.2:c.247C>T ENSP00000422485.1:p.Leu83=
NM_021147.4:c.247C>T NP_066970.3:p.Leu83=
NR_125346.1:n.441C>T
NR_125347.1:n.441C>T
NM_021147.5:c.247C>T MANE Select NP_066970.3:p.Leu83=
NR_125346.2:n.332C>T
NR_125347.2:n.332C>T