Canonical Allele Identifier: CA320272723
Gene: CBR1 HGNC NCBI
SETD4 HGNC NCBI
CBR1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.36070377G>A
GRCh37 chr21:g.37442675G>A
Revel Score:
ENST00000530908 0.043
ENST00000290349 (MANE Select) 0.043
ENST00000439427 0.043
ENST00000399191 0.043
gnomAD v2:
21:37442675 G / A
gnomAD v3:
21:36070377 G / A
gnomAD v4:
chr21-36070377-G-A
Joint Max Group AF 0.00003475 (AFR)
Genomes Max Group AF 0.00004737 (AFR)
dbSNP:
1143663
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36070377G>A , CM000683.2:g.36070377G>A GRCh38
NC_000021.8:g.37442675G>A , CM000683.1:g.37442675G>A GRCh37
NC_000021.7:g.36364545G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000290349.11:c.262G>A (CBR1) MANE Select ENSP00000290349.6:p.Val88Ile
ENST00000290349.10:c.262G>A (CBR1) ENSP00000290349.6:p.Val88Ile
ENST00000399191.3:c.262G>A (CBR1) ENSP00000382143.3:p.Val88Ile
ENST00000399201.5:c.-203+8928C>T (SETD4) ENSP00000382152.1:n.-203+8928C>T
ENST00000439427.2:c.262G>A (CBR1) ENSP00000395132.2:p.Val88Ile
ENST00000466328.2:n.437G>A (CBR1)
ENST00000530908.5:c.262G>A (CBR1) ENSP00000434613.1:p.Val88Ile
NM_001286789.1:c.262G>A (CBR1) NP_001273718.1:p.Val88Ile
NM_001757.3:c.262G>A (CBR1) NP_001748.1:p.Val88Ile
NR_040084.1:n.486C>T (CBR1-AS1)
NM_001757.4:c.262G>A (CBR1) MANE Select NP_001748.1:p.Val88Ile
NM_001286789.2:c.262G>A (CBR1) NP_001273718.1:p.Val88Ile
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