Canonical Allele Identifier: CA320305849
Gene: CBR3 HGNC NCBI
CBR3-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1002557241
gnomAD v2: 21-37512401-G-A
gnomAD v3: 21-36140103-G-A
gnomAD v4: 21-36140103-G-A
MyVariant Identifiers: chr21:g.37512401G>A (hg19) chr21:g.36140103G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36140103G>A , CM000683.2:g.36140103G>A GRCh38
NC_000021.8:g.37512401G>A , CM000683.1:g.37512401G>A GRCh37
NC_000021.7:g.36434271G>A NCBI36
NG_052818.1:g.10203G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290354.6:c.397+2171G>A (CBR3) MANE Select ENSP00000290354.5:n.397+2171G>A
ENST00000290354.5:c.397+2171G>A (CBR3) ENSP00000290354.5:n.397+2171G>A
NM_001236.3:c.397+2171G>A (CBR3) NP_001227.1:n.397+2171G>A
NR_038892.1:n.192+6153C>T (CBR3-AS1)
NR_038893.1:n.192+6153C>T (CBR3-AS1)
XM_011529772.1:c.398-1821G>A (CBR3) XP_011528074.1:n.398-1821G>A
XM_011529772.2:c.398-1821G>A (CBR3) XP_011528074.1:n.398-1821G>A
NM_001236.4:c.397+2171G>A (CBR3) MANE Select NP_001227.1:n.397+2171G>A
Search 100 bp 5'
Search 100 bp 3'