Canonical Allele Identifier: CA14860706
Gene: CBR1 HGNC NCBI
SETD4 HGNC NCBI
CBR1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.36071595T>C
GRCh37 chr21:g.37443893T>C
gnomAD v2:
21:37443893 T / C
gnomAD v3:
21:36071595 T / C
gnomAD v4:
chr21-36071595-T-C
Joint Max Group AF 0.80771109 (SAS)
Genomes Max Group AF 0.78974429 (AFR)
Exomes Max Group AF 0.80783273 (SAS)
dbSNP:
3787728
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36071595T>C , CM000683.2:g.36071595T>C GRCh38
NC_000021.8:g.37443893T>C , CM000683.1:g.37443893T>C GRCh37
NC_000021.7:g.36365763T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000290349.11:c.397+538T>C (CBR1) MANE Select ENSP00000290349.6:n.397+538T>C
ENST00000290349.10:c.397+538T>C (CBR1) ENSP00000290349.6:n.397+538T>C
ENST00000399191.3:c.397+538T>C (CBR1) ENSP00000382143.3:n.397+538T>C
ENST00000399201.5:c.-203+7710A>G (SETD4) ENSP00000382152.1:n.-203+7710A>G
ENST00000530908.5:c.398-220T>C (CBR1) ENSP00000434613.1:n.398-220T>C
NM_001286789.1:c.398-220T>C (CBR1) NP_001273718.1:n.398-220T>C
NM_001757.3:c.397+538T>C (CBR1) NP_001748.1:n.397+538T>C
NR_040084.1:n.378-1110A>G (CBR1-AS1)
NM_001757.4:c.397+538T>C (CBR1) MANE Select NP_001748.1:n.397+538T>C
NM_001286789.2:c.398-220T>C (CBR1) NP_001273718.1:n.398-220T>C
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