Canonical Allele Identifier: CA3266817

Gene: CCNO

Linked Data

• ClinVar Variation Id: 3139986
• ClinVar RCV Id: RCV004430810
• dbSNP Id: rs762835043
• ExAC: 5:54529086 G / A
• gnomAD v2: 5-54529086-G-A
• gnomAD v3: 5-55233258-G-A
• gnomAD v4: 5-55233258-G-A
• MyVariant Identifiers: chr5:g.54529086G>A (hg19) ; chr5:g.55233258G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55233258G>A , CM000667.2:g.55233258G>A	GRCh38
NC_000005.9:g.54529086G>A , CM000667.1:g.54529086G>A	GRCh37
NC_000005.8:g.54564843G>A	NCBI36
NG_034201.1:g.5460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282572.5:c.266C>T MANE Select	ENSP00000282572.4:p.Pro89Leu
ENST00000282572.4:c.266C>T	ENSP00000282572.4:p.Pro89Leu
ENST00000501463.2:c.266C>T	ENSP00000422485.1:p.Pro89Leu
NM_021147.4:c.266C>T	NP_066970.3:p.Pro89Leu
NR_125346.1:n.460C>T
NR_125347.1:n.460C>T
NM_021147.5:c.266C>T MANE Select	NP_066970.3:p.Pro89Leu
NR_125346.2:n.351C>T
NR_125347.2:n.351C>T