Canonical Allele Identifier: CA3266665

Gene: CCNO

Linked Data

• ClinVar Variation Id: 454919
• ClinVar RCV Id: RCV000541138
• dbSNP Id: rs753791521
• ExAC: 5:54527411 A / G
• gnomAD v2: 5-54527411-A-G
• gnomAD v3: 5-55231583-A-G
• gnomAD v4: 5-55231583-A-G
• MyVariant Identifiers: chr5:g.54527411A>G (hg19) ; chr5:g.55231583A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55231583A>G , CM000667.2:g.55231583A>G	GRCh38
NC_000005.9:g.54527411A>G , CM000667.1:g.54527411A>G	GRCh37
NC_000005.8:g.54563168A>G	NCBI36
NG_034201.1:g.7135T>C
NG_051620.1:g.733T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282572.5:c.845T>C MANE Select	ENSP00000282572.4:p.Leu282Pro
ENST00000282572.4:c.845T>C	ENSP00000282572.4:p.Leu282Pro
ENST00000501463.2:c.*825T>C	ENSP00000422485.1:n.*825T>C
NM_021147.4:c.845T>C	NP_066970.3:p.Leu282Pro
NR_125346.1:n.1415T>C
NR_125347.1:n.1044T>C
NR_125348.1:n.909T>C
NM_021147.5:c.845T>C MANE Select	NP_066970.3:p.Leu282Pro
NR_125346.2:n.1306T>C
NR_125347.2:n.935T>C