Canonical Allele Identifier: CA10015770
Gene: CBR3 HGNC NCBI
CBR3-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.36146381A>G
GRCh37 chr21:g.37518679A>G
Revel Score:
ENST00000290354 (MANE Select) 0.112
gnomAD v2:
21:37518679 A / G
gnomAD v4:
chr21-36146381-A-G
Joint Max Group AF 0.00000803 (NFE)
Exomes Max Group AF 0.00000852 (NFE)
dbSNP:
4987121
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36146381A>G , CM000683.2:g.36146381A>G GRCh38
NC_000021.8:g.37518679A>G , CM000683.1:g.37518679A>G GRCh37
NC_000021.7:g.36440549A>G NCBI36
NG_052818.1:g.16481A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290354.6:c.703A>G (CBR3) MANE Select ENSP00000290354.5:p.Met235Val
ENST00000290354.5:c.703A>G (CBR3) ENSP00000290354.5:p.Met235Val
NM_001236.3:c.703A>G (CBR3) NP_001227.1:p.Met235Val
NR_038892.1:n.93-26T>C (CBR3-AS1)
NR_038893.1:n.93-26T>C (CBR3-AS1)
NR_038894.1:n.93-26T>C (CBR3-AS1)
NM_001236.4:c.703A>G (CBR3) MANE Select NP_001227.1:p.Met235Val
Search 100 bp 5'
Search 100 bp 3'