Canonical Allele Identifier: CA10316185

Gene: SBF1

Linked Data

• ClinVar Variation Id: 3158000
• ClinVar RCV Id: RCV004450321
• dbSNP Id: rs750794912
• ExAC: 22:50893492 C / T
• gnomAD v2: 22-50893492-C-T
• gnomAD v3: 22-50455063-C-T
• gnomAD v4: 22-50455063-C-T
• MyVariant Identifiers: chr22:g.50893492C>T (hg19) ; chr22:g.50455063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455063C>T , CM000684.2:g.50455063C>T	GRCh38
NC_000022.10:g.50893492C>T , CM000684.1:g.50893492C>T	GRCh37
NC_000022.9:g.49240358C>T	NCBI36
NG_041810.1:g.25009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4556G>A	ENSP00000252027.8:p.Arg1519His
ENST00000418590.4:c.266G>A	ENSP00000401538.2:p.Arg89His
ENST00000470434.2:n.1037G>A
ENST00000684986.1:c.4637G>A	ENSP00000509117.1:p.Arg1546His
ENST00000685180.1:n.2488+5471G>A
ENST00000685390.1:n.2602G>A
ENST00000685411.1:n.384G>A
ENST00000685592.1:c.868G>A
ENST00000685809.1:c.4547G>A	ENSP00000508863.1:p.Arg1516His
ENST00000686029.1:c.712G>A
ENST00000686191.1:n.3834G>A
ENST00000686222.1:c.*4056G>A	ENSP00000508737.1:n.*4056G>A
ENST00000686321.1:c.730G>A
ENST00000686427.1:c.*1569G>A	ENSP00000510379.1:n.*1569G>A
ENST00000686758.1:n.2377G>A
ENST00000686801.1:c.4622G>A	ENSP00000509915.1:p.Arg1541His
ENST00000686826.1:n.953G>A
ENST00000687016.1:c.4535G>A	ENSP00000509074.1:p.Arg1512His
ENST00000687704.1:c.*2359G>A	ENSP00000510454.1:n.*2359G>A
ENST00000688066.1:c.4634G>A	ENSP00000510782.1:p.Arg1545His
ENST00000688124.1:c.*3552G>A	ENSP00000510645.1:n.*3552G>A
ENST00000688848.1:c.*3978G>A	ENSP00000509419.1:n.*3978G>A
ENST00000688985.1:c.1635G>A	ENSP00000510477.1:n.1635G>A
ENST00000689129.1:c.4559G>A	ENSP00000510414.1:p.Arg1520His
ENST00000689177.1:n.5906G>A
ENST00000689849.1:c.730G>A
ENST00000689981.1:c.4634G>A	ENSP00000509035.1:p.Arg1545His
ENST00000690369.1:n.4652G>A
ENST00000690590.1:n.1681G>A
ENST00000690990.1:c.4628G>A	ENSP00000510461.1:p.Arg1543His
ENST00000691233.1:c.4553G>A	ENSP00000509215.1:p.Arg1518His
ENST00000691306.1:c.732G>A
ENST00000691345.1:n.2302+1153G>A
ENST00000691792.1:c.4622G>A	ENSP00000509911.1:p.Arg1541His
ENST00000691959.1:n.5353G>A
ENST00000692844.1:n.1718G>A
ENST00000692946.1:c.730G>A
ENST00000693052.1:c.4652G>A	ENSP00000509558.1:p.Arg1551His
ENST00000693289.1:n.1793G>A
ENST00000693440.1:c.4631G>A	ENSP00000509462.1:p.Arg1544His
ENST00000693499.1:n.5559G>A
ENST00000693591.1:n.3371G>A
ENST00000380817.8:c.4634G>A MANE Select	ENSP00000370196.2:p.Arg1545His
ENST00000348911.10:c.4559G>A	ENSP00000252027.7:p.Arg1520His
ENST00000380817.7:c.4634G>A	ENSP00000370196.2:p.Arg1545His
ENST00000418590.3:c.234G>A
ENST00000470434.1:n.775G>A
NM_002972.3:c.4634G>A	NP_002963.2:p.Arg1545His
XM_005261931.1:c.4637G>A	XP_005261988.1:p.Arg1546His
XM_005261935.1:c.4556G>A	XP_005261992.1:p.Arg1519His
XM_011530707.1:c.4736G>A	XP_011529009.1:p.Arg1579His
XM_011530708.1:c.4688G>A	XP_011529010.1:p.Arg1563His
XM_011530709.1:c.4664G>A	XP_011529011.1:p.Arg1555His
XM_011530710.1:c.4661G>A	XP_011529012.1:p.Arg1554His
XM_011530711.1:c.4661G>A	XP_011529013.1:p.Arg1554His
XR_938344.1:n.4754G>A
NM_001365819.1:c.4559G>A	NP_001352748.1:p.Arg1520His
XM_005261935.2:c.4556G>A	XP_005261992.1:p.Arg1519His
XM_011530709.2:c.4664G>A	XP_011529011.1:p.Arg1555His
XM_011530710.2:c.4661G>A	XP_011529012.1:p.Arg1554His
XM_017028905.2:c.4586G>A	XP_016884394.1:p.Arg1529His
NM_002972.4:c.4634G>A MANE Select	NP_002963.2:p.Arg1545His