Canonical Allele Identifier: CA3266705

Gene: CCNO

Linked Data

• ClinVar Variation Id: 411595
• ClinVar RCV Id: RCV000457600 ; RCV003418200
• dbSNP Id: rs139980939
• ExAC: 5:54527571 C / T
• gnomAD v2: 5-54527571-C-T
• gnomAD v3: 5-55231743-C-T
• gnomAD v4: 5-55231743-C-T
• MyVariant Identifiers: chr5:g.54527571C>T (hg19) ; chr5:g.55231743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55231743C>T , CM000667.2:g.55231743C>T	GRCh38
NC_000005.9:g.54527571C>T , CM000667.1:g.54527571C>T	GRCh37
NC_000005.8:g.54563328C>T	NCBI36
NG_034201.1:g.6975G>A
NG_051620.1:g.573G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282572.5:c.685G>A MANE Select	ENSP00000282572.4:p.Gly229Ser
ENST00000282572.4:c.685G>A	ENSP00000282572.4:p.Gly229Ser
ENST00000501463.2:c.*665G>A	ENSP00000422485.1:n.*665G>A
NM_021147.4:c.685G>A	NP_066970.3:p.Gly229Ser
NR_125346.1:n.1255G>A
NR_125347.1:n.884G>A
NR_125348.1:n.749G>A
NM_021147.5:c.685G>A MANE Select	NP_066970.3:p.Gly229Ser
NR_125346.2:n.1146G>A
NR_125347.2:n.775G>A