Canonical Allele Identifier: CA3266863
Gene: CCNO HGNC NCBI

Linked Data

dbSNP Id: rs766546817
gnomAD v2: 5-54529240-G-A
gnomAD v3: 5-55233412-G-A
gnomAD v4: 5-55233412-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55233412G>A , CM000667.2:g.55233412G>A GRCh38
NC_000005.9:g.54529240G>A , CM000667.1:g.54529240G>A GRCh37
NC_000005.8:g.54564997G>A NCBI36
NG_034201.1:g.5306C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.112C>T MANE Select ENSP00000282572.4:p.Arg38Trp
ENST00000282572.4:c.112C>T ENSP00000282572.4:p.Arg38Trp
ENST00000501463.2:c.112C>T ENSP00000422485.1:p.Arg38Trp
NM_021147.4:c.112C>T NP_066970.3:p.Arg38Trp
NR_125346.1:n.306C>T
NR_125347.1:n.306C>T
NM_021147.5:c.112C>T MANE Select NP_066970.3:p.Arg38Trp
NR_125346.2:n.197C>T
NR_125347.2:n.197C>T