Canonical Allele Identifier: CA5424491
Gene: CUBN HGNC NCBI
ClinVar RCV:
RCV000352129
RCV002059535
ClinVar Variation:
299483
dbSNP:
199763912
gnomAD v2:
10:17061908 G / C
gnomAD v3:
10:17019909 G / C
gnomAD v4:
chr10-17019909-G-C
Joint Max Group AF 0.00018073 (SAS)
Genomes Max Group AF 0.00003761 (NFE)
Exomes Max Group AF 0.00019167 (SAS)
MyVariant.info:
GRCh38 chr10:g.17019909G>C
GRCh37 chr10:g.17061908G>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17019909G>C , CM000672.2:g.17019909G>C GRCh38
NC_000010.10:g.17061908G>C , CM000672.1:g.17061908G>C GRCh37
NC_000010.9:g.17101914G>C NCBI36
NG_008967.1:g.114909C>G , LRG_540:g.114909C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.4092C>G MANE Select ENSP00000367064.4:p.Ser1364=
ENST00000377833.8:c.4092C>G ENSP00000367064.4:p.Ser1364=
NM_001081.3:c.4092C>G , LRG_540t1:c.4092C>G NP_001072.2:p.Ser1364=
XM_011519708.1:c.4092C>G XP_011518010.1:p.Ser1364=
XM_011519709.1:c.78C>G XP_011518011.1:p.Ser26=
XM_011519710.1:c.54C>G XP_011518012.1:p.Ser18=
XM_011519708.2:c.4092C>G XP_011518010.1:p.Ser1364=
XM_011519709.2:c.78C>G XP_011518011.1:p.Ser26=
XM_011519710.2:c.54C>G XP_011518012.1:p.Ser18=
NM_001081.4:c.4092C>G MANE Select NP_001072.2:p.Ser1364=
Search 100 bp 5'
Search 100 bp 3'