Canonical Allele Identifier: CA118944705

Gene: CCNO

Linked Data

• dbSNP Id: rs904339417
• gnomAD v2: 5-54528827-T-G
• gnomAD v3: 5-55232999-T-G
• gnomAD v4: 5-55232999-T-G
• MyVariant Identifiers: chr5:g.54528827T>G (hg19) ; chr5:g.55232999T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55232999T>G , CM000667.2:g.55232999T>G	GRCh38
NC_000005.9:g.54528827T>G , CM000667.1:g.54528827T>G	GRCh37
NC_000005.8:g.54564584T>G	NCBI36
NG_034201.1:g.5719A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282572.5:c.381+144A>C MANE Select	ENSP00000282572.4:n.381+144A>C
ENST00000282572.4:c.381+144A>C	ENSP00000282572.4:n.381+144A>C
ENST00000501463.2:c.*129A>C	ENSP00000422485.1:n.*129A>C
NM_021147.4:c.381+144A>C	NP_066970.3:n.381+144A>C
NR_125346.1:n.719A>C
NR_125347.1:n.580+139A>C
NM_021147.5:c.381+144A>C MANE Select	NP_066970.3:n.381+144A>C
NR_125346.2:n.610A>C
NR_125347.2:n.471+139A>C