Canonical Allele Identifier: CA118944930
Gene: CCNO HGNC NCBI

Linked Data

ClinVar Variation Id: 2057281
ClinVar RCV Id: RCV002914820
dbSNP Id: rs1017115994
gnomAD v2: 5-54528982-G-A
gnomAD v3: 5-55233154-G-A
gnomAD v4: 5-55233154-G-A
MyVariant Identifiers: chr5:g.54528982G>A (hg19) chr5:g.55233154G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55233154G>A , CM000667.2:g.55233154G>A GRCh38
NC_000005.9:g.54528982G>A , CM000667.1:g.54528982G>A GRCh37
NC_000005.8:g.54564739G>A NCBI36
NG_034201.1:g.5564C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.370C>T MANE Select ENSP00000282572.4:p.Arg124Trp
ENST00000282572.4:c.370C>T ENSP00000282572.4:p.Arg124Trp
ENST00000501463.2:c.370C>T ENSP00000422485.1:p.Arg124Trp
NM_021147.4:c.370C>T NP_066970.3:p.Arg124Trp
NR_125346.1:n.564C>T
NR_125347.1:n.564C>T
NM_021147.5:c.370C>T MANE Select NP_066970.3:p.Arg124Trp
NR_125346.2:n.455C>T
NR_125347.2:n.455C>T
Search 100 bp 5'
Search 100 bp 3'