Canonical Allele Identifier: CA5422423

Gene: CUBN

Linked Data

• ClinVar Variation Id: 299363
• ClinVar RCV Id: RCV000861379 ; RCV002520546 ; RCV000364594
• dbSNP Id: rs145872906
• ExAC: 10:16877108 C / T
• gnomAD v2: 10-16877108-C-T
• gnomAD v3: 10-16835109-C-T
• gnomAD v4: 10-16835109-C-T
• MyVariant Identifiers: chr10:g.16877108C>T (hg19) ; chr10:g.16835109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.16835109C>T , CM000672.2:g.16835109C>T	GRCh38
NC_000010.10:g.16877108C>T , CM000672.1:g.16877108C>T	GRCh37
NC_000010.9:g.16917114C>T	NCBI36
NG_008967.1:g.299709G>A , LRG_540:g.299709G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377833.10:c.10267G>A MANE Select	ENSP00000367064.4:p.Val3423Ile
ENST00000377833.8:c.10267G>A	ENSP00000367064.4:p.Val3423Ile
NM_001081.3:c.10267G>A , LRG_540t1:c.10267G>A	NP_001072.2:p.Val3423Ile
XM_011519709.1:c.6253G>A	XP_011518011.1:p.Val2085Ile
XM_011519710.1:c.6229G>A	XP_011518012.1:p.Val2077Ile
XM_011519711.1:c.6109G>A	XP_011518013.1:p.Val2037Ile
XM_011519709.2:c.6253G>A	XP_011518011.1:p.Val2085Ile
XM_011519710.2:c.6229G>A	XP_011518012.1:p.Val2077Ile
XM_011519711.3:c.6109G>A	XP_011518013.1:p.Val2037Ile
NM_001081.4:c.10267G>A MANE Select	NP_001072.2:p.Val3423Ile