Canonical Allele Identifier: CA359721345

Gene: CCNO

Linked Data

• ClinVar Variation Id: 857063
• ClinVar RCV Id: RCV001062669 ; RCV002553925
• dbSNP Id: rs1745584991
• gnomAD v3: 5-55231704-G-A
• gnomAD v4: 5-55231704-G-A
• MyVariant Identifiers: chr5:g.54527532G>A (hg19) ; chr5:g.55231704G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55231704G>A , CM000667.2:g.55231704G>A	GRCh38
NC_000005.9:g.54527532G>A , CM000667.1:g.54527532G>A	GRCh37
NC_000005.8:g.54563289G>A	NCBI36
NG_034201.1:g.7014C>T
NG_051620.1:g.612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282572.5:c.724C>T MANE Select	ENSP00000282572.4:p.His242Tyr
ENST00000282572.4:c.724C>T	ENSP00000282572.4:p.His242Tyr
ENST00000501463.2:c.*704C>T	ENSP00000422485.1:n.*704C>T
NM_021147.4:c.724C>T	NP_066970.3:p.His242Tyr
NR_125346.1:n.1294C>T
NR_125347.1:n.923C>T
NR_125348.1:n.788C>T
NM_021147.5:c.724C>T MANE Select	NP_066970.3:p.His242Tyr
NR_125346.2:n.1185C>T
NR_125347.2:n.814C>T