Canonical Allele Identifier: CA10015755

Gene: CBR3 CBR3-AS1

Linked Data

• dbSNP Id: rs755251391
• ExAC: 21:37518613 G / A
• gnomAD v2: 21-37518613-G-A
• gnomAD v4: 21-36146315-G-A
• MyVariant Identifiers: chr21:g.37518613G>A (hg19) ; chr21:g.36146315G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36146315G>A , CM000683.2:g.36146315G>A	GRCh38
NC_000021.8:g.37518613G>A , CM000683.1:g.37518613G>A	GRCh37
NC_000021.7:g.36440483G>A	NCBI36
NG_052818.1:g.16415G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290354.6:c.637G>A (CBR3) MANE Select	ENSP00000290354.5:p.Asp213Asn
ENST00000290354.5:c.637G>A (CBR3)	ENSP00000290354.5:p.Asp213Asn
NM_001236.3:c.637G>A (CBR3)	NP_001227.1:p.Asp213Asn
NR_038892.1:n.133C>T (CBR3-AS1)
NR_038893.1:n.133C>T (CBR3-AS1)
NR_038894.1:n.133C>T (CBR3-AS1)
NM_001236.4:c.637G>A (CBR3) MANE Select	NP_001227.1:p.Asp213Asn