Canonical Allele Identifier: CA376146440
Gene: CUBN HGNC NCBI

Linked Data

ClinVar Variation Id: 2235663
ClinVar RCV Id: RCV002713250

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16915911A>G , CM000672.2:g.16915911A>G GRCh38
NC_000010.10:g.16957910A>G , CM000672.1:g.16957910A>G GRCh37
NC_000010.9:g.16997916A>G NCBI36
NG_008967.1:g.218907T>C , LRG_540:g.218907T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.7120T>C MANE Select ENSP00000367064.4:p.Tyr2374His
ENST00000377833.8:c.7120T>C ENSP00000367064.4:p.Tyr2374His
NM_001081.3:c.7120T>C , LRG_540t1:c.7120T>C NP_001072.2:p.Tyr2374His
XM_011519708.1:c.7120T>C XP_011518010.1:p.Tyr2374His
XM_011519709.1:c.3106T>C XP_011518011.1:p.Tyr1036His
XM_011519710.1:c.3082T>C XP_011518012.1:p.Tyr1028His
XM_011519711.1:c.2962T>C XP_011518013.1:p.Tyr988His
XM_011519708.2:c.7120T>C XP_011518010.1:p.Tyr2374His
XM_011519709.2:c.3106T>C XP_011518011.1:p.Tyr1036His
XM_011519710.2:c.3082T>C XP_011518012.1:p.Tyr1028His
XM_011519711.3:c.2962T>C XP_011518013.1:p.Tyr988His
NM_001081.4:c.7120T>C MANE Select NP_001072.2:p.Tyr2374His