Canonical Allele Identifier: CA10015769
Gene: CBR3 HGNC NCBI
CBR3-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.36146381A>T
GRCh37 chr21:g.37518679A>T
Revel Score:
ENST00000290354 (MANE Select) 0.133
gnomAD v2:
21:37518679 A / T
gnomAD v3:
21:36146381 A / T
gnomAD v4:
chr21-36146381-A-T
Joint Max Group AF 0.01836493 (AFR)
Genomes Max Group AF 0.01758153 (AFR)
Exomes Max Group AF 0.0185832 (AFR)
dbSNP:
4987121
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000290354.6:c.703A>T (CBR3) MANE Select ENSP00000290354.5:p.Met235Leu
ENST00000290354.5:c.703A>T (CBR3) ENSP00000290354.5:p.Met235Leu
NM_001236.3:c.703A>T (CBR3) NP_001227.1:p.Met235Leu
NR_038892.1:n.93-26T>A (CBR3-AS1)
NR_038893.1:n.93-26T>A (CBR3-AS1)
NR_038894.1:n.93-26T>A (CBR3-AS1)
NM_001236.4:c.703A>T (CBR3) MANE Select NP_001227.1:p.Met235Leu
Search 100 bp 5'
Search 100 bp 3'