Canonical Allele Identifier: CA1024493324

Gene: SMARCB1

Linked Data

• dbSNP Id: rs1928011783
• gnomAD v3: 22-23786965-C-T
• gnomAD v4: 22-23786965-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23786965C>T , CM000684.2:g.23786965C>T	GRCh38
NC_000022.10:g.24129152C>T , CM000684.1:g.24129152C>T	GRCh37
NC_000022.9:g.22459152C>T	NCBI36
NG_009303.1:g.5003C>T , LRG_520:g.5003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344921.11:c.-205C>T	ENSP00000340883.6:n.-205C>T
ENST00000407422.8:c.-205C>T	ENSP00000383984.3:n.-205C>T
ENST00000344921.10:c.-205C>T	ENSP00000340883.6:n.-205C>T
ENST00000417137.5:c.-205C>T	ENSP00000388489.1:n.-205C>T
NM_001007468.1:c.-205C>T	NP_001007469.1:n.-205C>T
NM_003073.3:c.-205C>T , LRG_520t1:c.-205C>T	NP_003064.2:n.-205C>T
NM_001007468.2:c.-205C>T	NP_001007469.1:n.-205C>T
NM_001317946.1:c.-205C>T	NP_001304875.1:n.-205C>T
NM_001362877.1:c.-205C>T	NP_001349806.1:n.-205C>T
NM_003073.4:c.-205C>T	NP_003064.2:n.-205C>T