Canonical Allele Identifier: CA3266819

Gene: CCNO

Linked Data

• ClinVar Variation Id: 1698884
• ClinVar RCV Id: RCV002272741 ; RCV003096135 ; RCV003534852
• dbSNP Id: rs764171316
• ExAC: 5:54529087 G / C
• gnomAD v2: 5-54529087-G-C
• gnomAD v3: 5-55233259-G-C
• gnomAD v4: 5-55233259-G-C
• MyVariant Identifiers: chr5:g.54529087G>C (hg19) ; chr5:g.55233259G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55233259G>C , CM000667.2:g.55233259G>C	GRCh38
NC_000005.9:g.54529087G>C , CM000667.1:g.54529087G>C	GRCh37
NC_000005.8:g.54564844G>C	NCBI36
NG_034201.1:g.5459C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282572.5:c.265C>G MANE Select	ENSP00000282572.4:p.Pro89Ala
ENST00000282572.4:c.265C>G	ENSP00000282572.4:p.Pro89Ala
ENST00000501463.2:c.265C>G	ENSP00000422485.1:p.Pro89Ala
NM_021147.4:c.265C>G	NP_066970.3:p.Pro89Ala
NR_125346.1:n.459C>G
NR_125347.1:n.459C>G
NM_021147.5:c.265C>G MANE Select	NP_066970.3:p.Pro89Ala
NR_125346.2:n.350C>G
NR_125347.2:n.350C>G