Canonical Allele Identifier: CA144293
Gene: CUBN HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.17019833C>T
GRCh37 chr10:g.17061832C>T
Revel Score:
ENST00000377833 (MANE Select) 0.238
gnomAD v2:
10:17061832 C / T
gnomAD v4:
chr10-17019833-C-T
Joint Max Group AF 0.00001454 (NFE)
Exomes Max Group AF 0.00001543 (NFE)
ClinVar Allele:
70978
ClinVar RCV:
RCV000049752
ClinVar Variation:
56339
dbSNP:
386833787
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17019833C>T , CM000672.2:g.17019833C>T GRCh38
NC_000010.10:g.17061832C>T , CM000672.1:g.17061832C>T GRCh37
NC_000010.9:g.17101838C>T NCBI36
NG_008967.1:g.114985G>A , LRG_540:g.114985G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.4168G>A MANE Select ENSP00000367064.4:p.Gly1390Ser
ENST00000377833.8:c.4168G>A ENSP00000367064.4:p.Gly1390Ser
NM_001081.3:c.4168G>A , LRG_540t1:c.4168G>A NP_001072.2:p.Gly1390Ser
XM_011519708.1:c.4168G>A XP_011518010.1:p.Gly1390Ser
XM_011519709.1:c.154G>A XP_011518011.1:p.Gly52Ser
XM_011519710.1:c.130G>A XP_011518012.1:p.Gly44Ser
XM_011519708.2:c.4168G>A XP_011518010.1:p.Gly1390Ser
XM_011519709.2:c.154G>A XP_011518011.1:p.Gly52Ser
XM_011519710.2:c.130G>A XP_011518012.1:p.Gly44Ser
NM_001081.4:c.4168G>A MANE Select NP_001072.2:p.Gly1390Ser
Search 100 bp 5'
Search 100 bp 3'