Canonical Allele Identifier: CA5422388

Gene: CUBN

Linked Data

• ClinVar Variation Id: 299361
• ClinVar RCV Id: RCV000398850 ; RCV001204197
• dbSNP Id: rs765943248
• ExAC: 10:16873419 T / C
• gnomAD v2: 10-16873419-T-C
• gnomAD v3: 10-16831420-T-C
• gnomAD v4: 10-16831420-T-C
• COSMIC: COSM5020703
• MyVariant Identifiers: chr10:g.16873419T>C (hg19) ; chr10:g.16831420T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.16831420T>C , CM000672.2:g.16831420T>C	GRCh38
NC_000010.10:g.16873419T>C , CM000672.1:g.16873419T>C	GRCh37
NC_000010.9:g.16913425T>C	NCBI36
NG_008967.1:g.303398A>G , LRG_540:g.303398A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000377833.10:c.10363-3A>G MANE Select	ENSP00000367064.4:n.10363-3A>G
ENST00000377833.8:c.10363-3A>G	ENSP00000367064.4:n.10363-3A>G
NM_001081.3:c.10363-3A>G , LRG_540t1:c.10363-3A>G	NP_001072.2:n.10363-3A>G
XM_011519709.1:c.6349-3A>G	XP_011518011.1:n.6349-3A>G
XM_011519710.1:c.6325-3A>G	XP_011518012.1:n.6325-3A>G
XM_011519711.1:c.6205-3A>G	XP_011518013.1:n.6205-3A>G
XM_011519709.2:c.6349-3A>G	XP_011518011.1:n.6349-3A>G
XM_011519710.2:c.6325-3A>G	XP_011518012.1:n.6325-3A>G
XM_011519711.3:c.6205-3A>G	XP_011518013.1:n.6205-3A>G
NM_001081.4:c.10363-3A>G MANE Select	NP_001072.2:n.10363-3A>G