Canonical Allele Identifier: CA3266845
Gene: CCNO HGNC NCBI

Linked Data

ClinVar Variation Id: 701560
ClinVar RCV Id: RCV000870153
dbSNP Id: rs760832879
ExAC: 5:54529169 G / A
gnomAD v2: 5-54529169-G-A
gnomAD v3: 5-55233341-G-A
gnomAD v4: 5-55233341-G-A
MyVariant Identifiers: chr5:g.54529169G>A (hg19) chr5:g.55233341G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55233341G>A , CM000667.2:g.55233341G>A GRCh38
NC_000005.9:g.54529169G>A , CM000667.1:g.54529169G>A GRCh37
NC_000005.8:g.54564926G>A NCBI36
NG_034201.1:g.5377C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.183C>T MANE Select ENSP00000282572.4:p.Phe61=
ENST00000282572.4:c.183C>T ENSP00000282572.4:p.Phe61=
ENST00000501463.2:c.183C>T ENSP00000422485.1:p.Phe61=
NM_021147.4:c.183C>T NP_066970.3:p.Phe61=
NR_125346.1:n.377C>T
NR_125347.1:n.377C>T
NM_021147.5:c.183C>T MANE Select NP_066970.3:p.Phe61=
NR_125346.2:n.268C>T
NR_125347.2:n.268C>T
Search 100 bp 5'
Search 100 bp 3'