Canonical Allele Identifier: CA5424986
Gene: CUBN HGNC NCBI
ClinVar RCV:
RCV000304885
RCV002520560
ClinVar Variation:
299508
dbSNP:
372125740
gnomAD v2:
10:17113815 T / C
gnomAD v3:
10:17071816 T / C
gnomAD v4:
chr10-17071816-T-C
Joint Max Group AF 0.0023179 (SAS)
Genomes Max Group AF 0.00082419 (SAS)
Exomes Max Group AF 0.00236028 (SAS)
MyVariant.info:
GRCh38 chr10:g.17071816T>C
GRCh37 chr10:g.17113815T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17071816T>C , CM000672.2:g.17071816T>C GRCh38
NC_000010.10:g.17113815T>C , CM000672.1:g.17113815T>C GRCh37
NC_000010.9:g.17153821T>C NCBI36
NG_008967.1:g.63002A>G , LRG_540:g.63002A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.2446+11A>G MANE Select ENSP00000367064.4:n.2446+11A>G
ENST00000377833.8:c.2446+11A>G ENSP00000367064.4:n.2446+11A>G
NM_001081.3:c.2446+11A>G , LRG_540t1:c.2446+11A>G NP_001072.2:n.2446+11A>G
XM_011519708.1:c.2446+11A>G XP_011518010.1:n.2446+11A>G
XM_011519708.2:c.2446+11A>G XP_011518010.1:n.2446+11A>G
NM_001081.4:c.2446+11A>G MANE Select NP_001072.2:n.2446+11A>G
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