Canonical Allele Identifier: CA118944650
Gene: CCNO HGNC NCBI

Linked Data

dbSNP Id: rs547117661
gnomAD v2: 5-54528758-C-T
gnomAD v3: 5-55232930-C-T
gnomAD v4: 5-55232930-C-T
MyVariant Identifiers: chr5:g.54528758C>T (hg19) chr5:g.55232930C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55232930C>T , CM000667.2:g.55232930C>T GRCh38
NC_000005.9:g.54528758C>T , CM000667.1:g.54528758C>T GRCh37
NC_000005.8:g.54564515C>T NCBI36
NG_034201.1:g.5788G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.381+213G>A MANE Select ENSP00000282572.4:n.381+213G>A
ENST00000282572.4:c.381+213G>A ENSP00000282572.4:n.381+213G>A
ENST00000501463.2:c.*198G>A ENSP00000422485.1:n.*198G>A
NM_021147.4:c.381+213G>A NP_066970.3:n.381+213G>A
NR_125346.1:n.788G>A
NR_125347.1:n.580+208G>A
NR_125348.1:n.62G>A
NM_021147.5:c.381+213G>A MANE Select NP_066970.3:n.381+213G>A
NR_125346.2:n.679G>A
NR_125347.2:n.471+208G>A
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