Canonical Allele Identifier: CA3266680

Gene: CCNO

Linked Data

• ClinVar Variation Id: 416793
• ClinVar RCV Id: RCV000473019
• dbSNP Id: rs138440180
• ExAC: 5:54527466 C / G
• gnomAD v2: 5-54527466-C-G
• gnomAD v3: 5-55231638-C-G
• gnomAD v4: 5-55231638-C-G
• MyVariant Identifiers: chr5:g.54527466C>G (hg19) ; chr5:g.55231638C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55231638C>G , CM000667.2:g.55231638C>G	GRCh38
NC_000005.9:g.54527466C>G , CM000667.1:g.54527466C>G	GRCh37
NC_000005.8:g.54563223C>G	NCBI36
NG_034201.1:g.7080G>C
NG_051620.1:g.678G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282572.5:c.790G>C MANE Select	ENSP00000282572.4:p.Gly264Arg
ENST00000282572.4:c.790G>C	ENSP00000282572.4:p.Gly264Arg
ENST00000501463.2:c.*770G>C	ENSP00000422485.1:n.*770G>C
NM_021147.4:c.790G>C	NP_066970.3:p.Gly264Arg
NR_125346.1:n.1360G>C
NR_125347.1:n.989G>C
NR_125348.1:n.854G>C
NM_021147.5:c.790G>C MANE Select	NP_066970.3:p.Gly264Arg
NR_125346.2:n.1251G>C
NR_125347.2:n.880G>C