Canonical Allele Identifier: CA10650931

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 340915
• ClinVar RCV Id: RCV000334169 ; RCV000372477 ; RCV001487925 ; RCV002257649
• dbSNP Id: rs745773662
• gnomAD v4: 22-23833568-G-C
• MyVariant Identifiers: chr22:g.24175755G>C (hg19) ; chr22:g.23833568G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833568G>C , CM000684.2:g.23833568G>C	GRCh38
NC_000022.10:g.24175755G>C , CM000684.1:g.24175755G>C	GRCh37
NC_000022.9:g.22505755G>C	NCBI36
NG_009303.1:g.51606G>C , LRG_520:g.51606G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.849-4G>C	ENSP00000263121.8:n.849-4G>C
ENST00000344921.11:c.1014-4G>C	ENSP00000340883.6:n.1014-4G>C
ENST00000407422.8:c.960-4G>C	ENSP00000383984.3:n.960-4G>C
ENST00000477836.2:n.2138-4G>C
ENST00000644036.2:c.987-4G>C MANE Select	ENSP00000494049.2:n.987-4G>C
ENST00000644462.1:c.1705-4G>C	ENSP00000494283.1:n.1705-4G>C
ENST00000645799.1:n.2309-4G>C
ENST00000646723.1:n.3333-4G>C
ENST00000647057.1:c.*481-4G>C	ENSP00000494757.1:n.*481-4G>C
ENST00000263121.11:c.987-4G>C	ENSP00000263121.7:n.987-4G>C
ENST00000344921.10:c.1014-4G>C	ENSP00000340883.6:n.1014-4G>C
ENST00000407082.3:c.849-4G>C	ENSP00000385226.3:n.849-4G>C
ENST00000407422.7:c.960-4G>C	ENSP00000383984.3:n.960-4G>C
NM_001007468.1:c.960-4G>C	NP_001007469.1:n.960-4G>C
NM_003073.3:c.987-4G>C , LRG_520t1:c.987-4G>C	NP_003064.2:n.987-4G>C
XM_011530345.1:c.1041-4G>C	XP_011528647.1:n.1041-4G>C
XM_011530346.1:c.1014-4G>C	XP_011528648.1:n.1014-4G>C
NM_001007468.2:c.960-4G>C	NP_001007469.1:n.960-4G>C
NM_001317946.1:c.1014-4G>C	NP_001304875.1:n.1014-4G>C
NM_001362877.1:c.1041-4G>C	NP_001349806.1:n.1041-4G>C
NM_003073.4:c.987-4G>C	NP_003064.2:n.987-4G>C
NM_001007468.3:c.960-4G>C	NP_001007469.1:n.960-4G>C
NM_001317946.2:c.1014-4G>C	NP_001304875.1:n.1014-4G>C
NM_001362877.2:c.1041-4G>C	NP_001349806.1:n.1041-4G>C
NM_003073.5:c.987-4G>C MANE Select	NP_003064.2:n.987-4G>C