Canonical Allele Identifier: CA3266854

Gene: CCNO

Linked Data

• ClinVar Variation Id: 416791
• ClinVar RCV Id: RCV000473732 ; RCV000660536 ; RCV001311652
• dbSNP Id: rs139606873
• ExAC: 5:54529218 G / T
• gnomAD v2: 5-54529218-G-T
• gnomAD v3: 5-55233390-G-T
• gnomAD v4: 5-55233390-G-T
• MyVariant Identifiers: chr5:g.54529218G>T (hg19) ; chr5:g.55233390G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55233390G>T , CM000667.2:g.55233390G>T	GRCh38
NC_000005.9:g.54529218G>T , CM000667.1:g.54529218G>T	GRCh37
NC_000005.8:g.54564975G>T	NCBI36
NG_034201.1:g.5328C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282572.5:c.134C>A MANE Select	ENSP00000282572.4:p.Pro45His
ENST00000282572.4:c.134C>A	ENSP00000282572.4:p.Pro45His
ENST00000501463.2:c.134C>A	ENSP00000422485.1:p.Pro45His
NM_021147.4:c.134C>A	NP_066970.3:p.Pro45His
NR_125346.1:n.328C>A
NR_125347.1:n.328C>A
NM_021147.5:c.134C>A MANE Select	NP_066970.3:p.Pro45His
NR_125346.2:n.219C>A
NR_125347.2:n.219C>A