Canonical Allele Identifier: CA359725243
Gene: CCNO HGNC NCBI

Linked Data

ClinVar Variation Id: 3139985
ClinVar RCV Id: RCV004430809
dbSNP Id: rs1745658242
gnomAD v3: 5-55233355-T-C
gnomAD v4: 5-55233355-T-C
MyVariant Identifiers: chr5:g.54529183T>C (hg19) chr5:g.55233355T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55233355T>C , CM000667.2:g.55233355T>C GRCh38
NC_000005.9:g.54529183T>C , CM000667.1:g.54529183T>C GRCh37
NC_000005.8:g.54564940T>C NCBI36
NG_034201.1:g.5363A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.169A>G MANE Select ENSP00000282572.4:p.Ile57Val
ENST00000282572.4:c.169A>G ENSP00000282572.4:p.Ile57Val
ENST00000501463.2:c.169A>G ENSP00000422485.1:p.Ile57Val
NM_021147.4:c.169A>G NP_066970.3:p.Ile57Val
NR_125346.1:n.363A>G
NR_125347.1:n.363A>G
NM_021147.5:c.169A>G MANE Select NP_066970.3:p.Ile57Val
NR_125346.2:n.254A>G
NR_125347.2:n.254A>G
Search 100 bp 5'
Search 100 bp 3'