Canonical Allele Identifier: CA4279183

Gene: SBDS

Linked Data

• ClinVar Variation Id: 2451812
• ClinVar RCV Id: RCV003187508
• dbSNP Id: rs367957034
• ExAC: 7:66458330 A / G
• gnomAD v2: 7-66458330-A-G
• gnomAD v3: 7-66993343-A-G
• gnomAD v4: 7-66993343-A-G
• MyVariant Identifiers: chr7:g.66458330A>G (hg19) ; chr7:g.66993343A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993343A>G , CM000669.2:g.66993343A>G	GRCh38
NC_000007.13:g.66458330A>G , CM000669.1:g.66458330A>G	GRCh37
NC_000007.12:g.66095765A>G	NCBI36
NG_007277.1:g.7259T>C , LRG_104:g.7259T>C
NG_033069.1:g.1539A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*64T>C	ENSP00000394586.1:n.*64T>C
ENST00000697860.1:n.300T>C
ENST00000697861.1:c.258+869T>C	ENSP00000513460.1:n.258+869T>C
ENST00000697862.1:c.333T>C	ENSP00000513461.1:p.Ile111=
ENST00000697863.1:c.276T>C	ENSP00000513462.1:p.Ile92=
ENST00000697864.1:n.1477T>C
ENST00000697865.1:c.276T>C	ENSP00000513463.1:p.Ile92=
ENST00000697866.1:c.15T>C	ENSP00000513464.1:p.Ile5=
ENST00000697867.1:c.173T>C
ENST00000697868.1:c.*97T>C	ENSP00000513466.1:n.*97T>C
ENST00000697869.1:c.*68T>C	ENSP00000513467.1:n.*68T>C
ENST00000697897.1:c.333T>C	ENSP00000513469.1:p.Ile111=
ENST00000246868.7:c.333T>C MANE Select	ENSP00000246868.2:p.Ile111=
ENST00000246868.6:c.333T>C	ENSP00000246868.2:p.Ile111=
ENST00000414306.5:c.*64T>C	ENSP00000394586.1:n.*64T>C
ENST00000463579.1:n.222T>C
ENST00000490953.5:n.474T>C
ENST00000617799.1:c.333T>C	ENSP00000483040.1:p.Ile111=
NM_016038.2:c.333T>C , LRG_104t1:c.333T>C	NP_057122.2:p.Ile111=
NM_016038.3:c.333T>C	NP_057122.2:p.Ile111=
NM_016038.4:c.333T>C MANE Select	NP_057122.2:p.Ile111=