Canonical Allele Identifier: CA118942683
Gene: CCNO HGNC NCBI

Linked Data

ClinVar Variation Id: 952760
ClinVar RCV Id: RCV001224931
dbSNP Id: rs150766906
gnomAD v2: 5-54527471-G-A
gnomAD v3: 5-55231643-G-A
gnomAD v4: 5-55231643-G-A
MyVariant Identifiers: chr5:g.54527471G>A (hg19) chr5:g.55231643G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55231643G>A , CM000667.2:g.55231643G>A GRCh38
NC_000005.9:g.54527471G>A , CM000667.1:g.54527471G>A GRCh37
NC_000005.8:g.54563228G>A NCBI36
NG_034201.1:g.7075C>T
NG_051620.1:g.673C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.785C>T MANE Select ENSP00000282572.4:p.Ala262Val
ENST00000282572.4:c.785C>T ENSP00000282572.4:p.Ala262Val
ENST00000501463.2:c.*765C>T ENSP00000422485.1:n.*765C>T
NM_021147.4:c.785C>T NP_066970.3:p.Ala262Val
NR_125346.1:n.1355C>T
NR_125347.1:n.984C>T
NR_125348.1:n.849C>T
NM_021147.5:c.785C>T MANE Select NP_066970.3:p.Ala262Val
NR_125346.2:n.1246C>T
NR_125347.2:n.875C>T
Search 100 bp 5'
Search 100 bp 3'