Canonical Allele Identifier: CA5424949

Gene: CUBN

Linked Data

• ClinVar Variation Id: 299503
• ClinVar RCV Id: RCV000338885 ; RCV002520558
• dbSNP Id: rs775423928
• ExAC: 10:17113514 T / C
• gnomAD v2: 10-17113514-T-C
• gnomAD v3: 10-17071515-T-C
• gnomAD v4: 10-17071515-T-C
• MyVariant Identifiers: chr10:g.17113514T>C (hg19) ; chr10:g.17071515T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.17071515T>C , CM000672.2:g.17071515T>C	GRCh38
NC_000010.10:g.17113514T>C , CM000672.1:g.17113514T>C	GRCh37
NC_000010.9:g.17153520T>C	NCBI36
NG_008967.1:g.63303A>G , LRG_540:g.63303A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000377833.10:c.2536A>G MANE Select	ENSP00000367064.4:p.Ile846Val
ENST00000377833.8:c.2536A>G	ENSP00000367064.4:p.Ile846Val
NM_001081.3:c.2536A>G , LRG_540t1:c.2536A>G	NP_001072.2:p.Ile846Val
XM_011519708.1:c.2536A>G	XP_011518010.1:p.Ile846Val
XM_011519708.2:c.2536A>G	XP_011518010.1:p.Ile846Val
NM_001081.4:c.2536A>G MANE Select	NP_001072.2:p.Ile846Val