Canonical Allele Identifier: CA10316184

Gene: SBF1

Linked Data

• ClinVar Variation Id: 1665267
• ClinVar RCV Id: RCV002181963 ; RCV003951310
• dbSNP Id: rs569246879
• ExAC: 22:50893491 A / C
• gnomAD v2: 22-50893491-A-C
• gnomAD v3: 22-50455062-A-C
• gnomAD v4: 22-50455062-A-C
• MyVariant Identifiers: chr22:g.50893491A>C (hg19) ; chr22:g.50455062A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455062A>C , CM000684.2:g.50455062A>C	GRCh38
NC_000022.10:g.50893491A>C , CM000684.1:g.50893491A>C	GRCh37
NC_000022.9:g.49240357A>C	NCBI36
NG_041810.1:g.25010T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4557T>G	ENSP00000252027.8:p.Arg1519=
ENST00000418590.4:c.267T>G	ENSP00000401538.2:p.Arg89=
ENST00000470434.2:n.1038T>G
ENST00000684986.1:c.4638T>G	ENSP00000509117.1:p.Arg1546=
ENST00000685180.1:n.2488+5472T>G
ENST00000685390.1:n.2603T>G
ENST00000685411.1:n.385T>G
ENST00000685592.1:c.869T>G
ENST00000685809.1:c.4548T>G	ENSP00000508863.1:p.Arg1516=
ENST00000686029.1:c.713T>G
ENST00000686191.1:n.3835T>G
ENST00000686222.1:c.*4057T>G	ENSP00000508737.1:n.*4057T>G
ENST00000686321.1:c.731T>G
ENST00000686427.1:c.*1570T>G	ENSP00000510379.1:n.*1570T>G
ENST00000686758.1:n.2378T>G
ENST00000686801.1:c.4623T>G	ENSP00000509915.1:p.Arg1541=
ENST00000686826.1:n.954T>G
ENST00000687016.1:c.4536T>G	ENSP00000509074.1:p.Arg1512=
ENST00000687704.1:c.*2360T>G	ENSP00000510454.1:n.*2360T>G
ENST00000688066.1:c.4635T>G	ENSP00000510782.1:p.Arg1545=
ENST00000688124.1:c.*3553T>G	ENSP00000510645.1:n.*3553T>G
ENST00000688848.1:c.*3979T>G	ENSP00000509419.1:n.*3979T>G
ENST00000688985.1:c.1636T>G	ENSP00000510477.1:n.1636T>G
ENST00000689129.1:c.4560T>G	ENSP00000510414.1:p.Arg1520=
ENST00000689177.1:n.5907T>G
ENST00000689849.1:c.731T>G
ENST00000689981.1:c.4635T>G	ENSP00000509035.1:p.Arg1545=
ENST00000690369.1:n.4653T>G
ENST00000690590.1:n.1682T>G
ENST00000690990.1:c.4629T>G	ENSP00000510461.1:p.Arg1543=
ENST00000691233.1:c.4554T>G	ENSP00000509215.1:p.Arg1518=
ENST00000691306.1:c.733T>G
ENST00000691345.1:n.2302+1154T>G
ENST00000691792.1:c.4623T>G	ENSP00000509911.1:p.Arg1541=
ENST00000691959.1:n.5354T>G
ENST00000692844.1:n.1719T>G
ENST00000692946.1:c.731T>G
ENST00000693052.1:c.4653T>G	ENSP00000509558.1:p.Arg1551=
ENST00000693289.1:n.1794T>G
ENST00000693440.1:c.4632T>G	ENSP00000509462.1:p.Arg1544=
ENST00000693499.1:n.5560T>G
ENST00000693591.1:n.3372T>G
ENST00000380817.8:c.4635T>G MANE Select	ENSP00000370196.2:p.Arg1545=
ENST00000348911.10:c.4560T>G	ENSP00000252027.7:p.Arg1520=
ENST00000380817.7:c.4635T>G	ENSP00000370196.2:p.Arg1545=
ENST00000418590.3:c.235T>G
ENST00000470434.1:n.776T>G
NM_002972.3:c.4635T>G	NP_002963.2:p.Arg1545=
XM_005261931.1:c.4638T>G	XP_005261988.1:p.Arg1546=
XM_005261935.1:c.4557T>G	XP_005261992.1:p.Arg1519=
XM_011530707.1:c.4737T>G	XP_011529009.1:p.Arg1579=
XM_011530708.1:c.4689T>G	XP_011529010.1:p.Arg1563=
XM_011530709.1:c.4665T>G	XP_011529011.1:p.Arg1555=
XM_011530710.1:c.4662T>G	XP_011529012.1:p.Arg1554=
XM_011530711.1:c.4662T>G	XP_011529013.1:p.Arg1554=
XR_938344.1:n.4755T>G
NM_001365819.1:c.4560T>G	NP_001352748.1:p.Arg1520=
XM_005261935.2:c.4557T>G	XP_005261992.1:p.Arg1519=
XM_011530709.2:c.4665T>G	XP_011529011.1:p.Arg1555=
XM_011530710.2:c.4662T>G	XP_011529012.1:p.Arg1554=
XM_017028905.2:c.4587T>G	XP_016884394.1:p.Arg1529=
NM_002972.4:c.4635T>G MANE Select	NP_002963.2:p.Arg1545=