Canonical Allele Identifier: CA5424879
Gene: CUBN HGNC NCBI
ClinVar RCV:
RCV000507264
RCV001083838
RCV001106472
RCV002252145
ClinVar Variation:
439581
COSMIC:
COSM5019436
dbSNP:
148869805
gnomAD v2:
10:17110639 T / C
gnomAD v3:
10:17068640 T / C
gnomAD v4:
chr10-17068640-T-C
Joint Max Group AF 0.00810485 (NFE)
Genomes Max Group AF 0.00690818 (NFE)
Exomes Max Group AF 0.00814905 (NFE)
MyVariant.info:
GRCh38 chr10:g.17068640T>C
GRCh37 chr10:g.17110639T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17068640T>C , CM000672.2:g.17068640T>C GRCh38
NC_000010.10:g.17110639T>C , CM000672.1:g.17110639T>C GRCh37
NC_000010.9:g.17150645T>C NCBI36
NG_008967.1:g.66178A>G , LRG_540:g.66178A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.2756A>G MANE Select ENSP00000367064.4:p.His919Arg
ENST00000377833.8:c.2756A>G ENSP00000367064.4:p.His919Arg
NM_001081.3:c.2756A>G , LRG_540t1:c.2756A>G NP_001072.2:p.His919Arg
XM_011519708.1:c.2756A>G XP_011518010.1:p.His919Arg
XM_011519708.2:c.2756A>G XP_011518010.1:p.His919Arg
NM_001081.4:c.2756A>G MANE Select NP_001072.2:p.His919Arg
Search 100 bp 5'
Search 100 bp 3'