Canonical Allele Identifier: CA409884825

Gene: CBR3 CBR3-AS1

Linked Data

• dbSNP Id: rs1320405026
• gnomAD v2: 21-37518610-C-A
• gnomAD v3: 21-36146312-C-A
• gnomAD v4: 21-36146312-C-A
• MyVariant Identifiers: chr21:g.37518610C>A (hg19) ; chr21:g.36146312C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36146312C>A , CM000683.2:g.36146312C>A	GRCh38
NC_000021.8:g.37518610C>A , CM000683.1:g.37518610C>A	GRCh37
NC_000021.7:g.36440480C>A	NCBI36
NG_052818.1:g.16412C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290354.6:c.634C>A (CBR3) MANE Select	ENSP00000290354.5:p.Leu212Met
ENST00000290354.5:c.634C>A (CBR3)	ENSP00000290354.5:p.Leu212Met
NM_001236.3:c.634C>A (CBR3)	NP_001227.1:p.Leu212Met
NR_038892.1:n.136G>T (CBR3-AS1)
NR_038893.1:n.136G>T (CBR3-AS1)
NR_038894.1:n.136G>T (CBR3-AS1)
NM_001236.4:c.634C>A (CBR3) MANE Select	NP_001227.1:p.Leu212Met