Canonical Allele Identifier: CA3266707

Gene: CCNO

Linked Data

• ClinVar Variation Id: 411594
• ClinVar RCV Id: RCV000470093
• dbSNP Id: rs775051461
• ExAC: 5:54527618 A / G
• gnomAD v2: 5-54527618-A-G
• gnomAD v3: 5-55231790-A-G
• gnomAD v4: 5-55231790-A-G
• MyVariant Identifiers: chr5:g.54527618A>G (hg19) ; chr5:g.55231790A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55231790A>G , CM000667.2:g.55231790A>G	GRCh38
NC_000005.9:g.54527618A>G , CM000667.1:g.54527618A>G	GRCh37
NC_000005.8:g.54563375A>G	NCBI36
NG_034201.1:g.6928T>C
NG_051620.1:g.526T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282572.5:c.638T>C MANE Select	ENSP00000282572.4:p.Leu213Pro
ENST00000282572.4:c.638T>C	ENSP00000282572.4:p.Leu213Pro
ENST00000501463.2:c.*618T>C	ENSP00000422485.1:n.*618T>C
NM_021147.4:c.638T>C	NP_066970.3:p.Leu213Pro
NR_125346.1:n.1208T>C
NR_125347.1:n.837T>C
NR_125348.1:n.702T>C
NM_021147.5:c.638T>C MANE Select	NP_066970.3:p.Leu213Pro
NR_125346.2:n.1099T>C
NR_125347.2:n.728T>C