Canonical Allele Identifier: CA5422259
Gene: CUBN HGNC NCBI

Linked Data

ClinVar Variation Id: 299354
ClinVar RCV Id: RCV000278922 RCV001555505
dbSNP Id: rs7085076
ExAC: 10:16866929 G / A
gnomAD v2: 10-16866929-G-A
gnomAD v3: 10-16824930-G-A
gnomAD v4: 10-16824930-G-A
MyVariant Identifiers: chr10:g.16866929G>A (hg19) chr10:g.16824930G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16824930G>A , CM000672.2:g.16824930G>A GRCh38
NC_000010.10:g.16866929G>A , CM000672.1:g.16866929G>A GRCh37
NC_000010.9:g.16906935G>A NCBI36
NG_008967.1:g.309888C>T , LRG_540:g.309888C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377833.10:c.*45C>T MANE Select ENSP00000367064.4:n.*45C>T
ENST00000377833.8:c.*45C>T ENSP00000367064.4:n.*45C>T
NM_001081.3:c.*45C>T , LRG_540t1:c.*45C>T NP_001072.2:n.*45C>T
XM_011519709.1:c.*45C>T XP_011518011.1:n.*45C>T
XM_011519710.1:c.*45C>T XP_011518012.1:n.*45C>T
XM_011519711.1:c.*45C>T XP_011518013.1:n.*45C>T
XM_011519709.2:c.*45C>T XP_011518011.1:n.*45C>T
XM_011519710.2:c.*45C>T XP_011518012.1:n.*45C>T
XM_011519711.3:c.*45C>T XP_011518013.1:n.*45C>T
NM_001081.4:c.*45C>T MANE Select NP_001072.2:n.*45C>T
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