Canonical Allele Identifier: CA5425407
Gene: CUBN HGNC NCBI
ClinVar RCV:
RCV000309033
RCV001308314
RCV003897679
ClinVar Variation:
299528
dbSNP:
199662739
gnomAD v2:
10:17151634 A / G
gnomAD v3:
10:17109635 A / G
gnomAD v4:
chr10-17109635-A-G
Joint Max Group AF 0.0000581 (MID)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00006105 (MID)
MyVariant.info:
GRCh38 chr10:g.17109635A>G
GRCh37 chr10:g.17151634A>G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17109635A>G , CM000672.2:g.17109635A>G GRCh38
NC_000010.10:g.17151634A>G , CM000672.1:g.17151634A>G GRCh37
NC_000010.9:g.17191640A>G NCBI36
NG_008967.1:g.25183T>C , LRG_540:g.25183T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.1111+5T>C MANE Select ENSP00000367064.4:n.1111+5T>C
ENST00000377833.8:c.1111+5T>C ENSP00000367064.4:n.1111+5T>C
NM_001081.3:c.1111+5T>C , LRG_540t1:c.1111+5T>C NP_001072.2:n.1111+5T>C
XM_011519708.1:c.1111+5T>C XP_011518010.1:n.1111+5T>C
XM_011519708.2:c.1111+5T>C XP_011518010.1:n.1111+5T>C
NM_001081.4:c.1111+5T>C MANE Select NP_001072.2:n.1111+5T>C
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