Canonical Allele Identifier: CA5422628
Gene: CUBN HGNC NCBI
ClinVar RCV:
RCV000394267
RCV002059531
RCV003930253
ClinVar Variation:
299375
dbSNP:
145383974
gnomAD v2:
10:16883055 A / C
gnomAD v3:
10:16841056 A / C
gnomAD v4:
chr10-16841056-A-C
Joint Max Group AF 0.00044251 (NFE)
Genomes Max Group AF 0.00029244 (NFE)
Exomes Max Group AF 0.00044531 (NFE)
MyVariant.info:
GRCh38 chr10:g.16841056A>C
GRCh37 chr10:g.16883055A>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16841056A>C , CM000672.2:g.16841056A>C GRCh38
NC_000010.10:g.16883055A>C , CM000672.1:g.16883055A>C GRCh37
NC_000010.9:g.16923061A>C NCBI36
NG_008967.1:g.293762T>G , LRG_540:g.293762T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.9664-9T>G MANE Select ENSP00000367064.4:n.9664-9T>G
ENST00000649135.1:n.259-9T>G
ENST00000377833.8:c.9664-9T>G ENSP00000367064.4:n.9664-9T>G
NM_001081.3:c.9664-9T>G , LRG_540t1:c.9664-9T>G NP_001072.2:n.9664-9T>G
XM_011519709.1:c.5650-9T>G XP_011518011.1:n.5650-9T>G
XM_011519710.1:c.5626-9T>G XP_011518012.1:n.5626-9T>G
XM_011519711.1:c.5506-9T>G XP_011518013.1:n.5506-9T>G
XM_011519709.2:c.5650-9T>G XP_011518011.1:n.5650-9T>G
XM_011519710.2:c.5626-9T>G XP_011518012.1:n.5626-9T>G
XM_011519711.3:c.5506-9T>G XP_011518013.1:n.5506-9T>G
NM_001081.4:c.9664-9T>G MANE Select NP_001072.2:n.9664-9T>G
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