Canonical Allele Identifier: CA412195438

Gene: SBF1

Linked Data

• dbSNP Id: rs1398496954
• gnomAD v2: 22-50893568-G-A
• gnomAD v4: 22-50455139-G-A
• MyVariant Identifiers: chr22:g.50893568G>A (hg19) ; chr22:g.50455139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455139G>A , CM000684.2:g.50455139G>A	GRCh38
NC_000022.10:g.50893568G>A , CM000684.1:g.50893568G>A	GRCh37
NC_000022.9:g.49240434G>A	NCBI36
NG_041810.1:g.24933C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4480C>T	ENSP00000252027.8:p.His1494Tyr
ENST00000418590.4:c.190C>T	ENSP00000401538.2:p.His64Tyr
ENST00000470434.2:n.961C>T
ENST00000684986.1:c.4561C>T	ENSP00000509117.1:p.His1521Tyr
ENST00000685180.1:n.2488+5395C>T
ENST00000685390.1:n.2526C>T
ENST00000685411.1:n.308C>T
ENST00000685592.1:c.792C>T
ENST00000685809.1:c.4471C>T	ENSP00000508863.1:p.His1491Tyr
ENST00000686029.1:c.636C>T
ENST00000686191.1:n.3758C>T
ENST00000686222.1:c.*3980C>T	ENSP00000508737.1:n.*3980C>T
ENST00000686321.1:c.654C>T
ENST00000686427.1:c.*1493C>T	ENSP00000510379.1:n.*1493C>T
ENST00000686758.1:n.2301C>T
ENST00000686801.1:c.4546C>T	ENSP00000509915.1:p.His1516Tyr
ENST00000686826.1:n.877C>T
ENST00000687016.1:c.4459C>T	ENSP00000509074.1:p.His1487Tyr
ENST00000687704.1:c.*2283C>T	ENSP00000510454.1:n.*2283C>T
ENST00000688066.1:c.4558C>T	ENSP00000510782.1:p.His1520Tyr
ENST00000688124.1:c.*3476C>T	ENSP00000510645.1:n.*3476C>T
ENST00000688848.1:c.*3902C>T	ENSP00000509419.1:n.*3902C>T
ENST00000688985.1:c.1559C>T	ENSP00000510477.1:n.1559C>T
ENST00000689129.1:c.4483C>T	ENSP00000510414.1:p.His1495Tyr
ENST00000689177.1:n.5830C>T
ENST00000689849.1:c.654C>T
ENST00000689981.1:c.4558C>T	ENSP00000509035.1:p.His1520Tyr
ENST00000690369.1:n.4576C>T
ENST00000690590.1:n.1605C>T
ENST00000690990.1:c.4552C>T	ENSP00000510461.1:p.His1518Tyr
ENST00000691233.1:c.4477C>T	ENSP00000509215.1:p.His1493Tyr
ENST00000691306.1:c.656C>T
ENST00000691345.1:n.2302+1077C>T
ENST00000691792.1:c.4555-9C>T	ENSP00000509911.1:n.4555-9C>T
ENST00000691959.1:n.5277C>T
ENST00000692844.1:n.1642C>T
ENST00000692946.1:c.654C>T
ENST00000693052.1:c.4576C>T	ENSP00000509558.1:p.His1526Tyr
ENST00000693289.1:n.1717C>T
ENST00000693440.1:c.4555C>T	ENSP00000509462.1:p.His1519Tyr
ENST00000693499.1:n.5483C>T
ENST00000693591.1:n.3295C>T
ENST00000380817.8:c.4558C>T MANE Select	ENSP00000370196.2:p.His1520Tyr
ENST00000348911.10:c.4483C>T	ENSP00000252027.7:p.His1495Tyr
ENST00000380817.7:c.4558C>T	ENSP00000370196.2:p.His1520Tyr
ENST00000418590.3:c.158C>T
ENST00000470434.1:n.699C>T
NM_002972.3:c.4558C>T	NP_002963.2:p.His1520Tyr
XM_005261931.1:c.4561C>T	XP_005261988.1:p.His1521Tyr
XM_005261935.1:c.4480C>T	XP_005261992.1:p.His1494Tyr
XM_011530707.1:c.4660C>T	XP_011529009.1:p.His1554Tyr
XM_011530708.1:c.4612C>T	XP_011529010.1:p.His1538Tyr
XM_011530709.1:c.4588C>T	XP_011529011.1:p.His1530Tyr
XM_011530710.1:c.4585C>T	XP_011529012.1:p.His1529Tyr
XM_011530711.1:c.4585C>T	XP_011529013.1:p.His1529Tyr
XR_938344.1:n.4678C>T
NM_001365819.1:c.4483C>T	NP_001352748.1:p.His1495Tyr
XM_005261935.2:c.4480C>T	XP_005261992.1:p.His1494Tyr
XM_011530709.2:c.4588C>T	XP_011529011.1:p.His1530Tyr
XM_011530710.2:c.4585C>T	XP_011529012.1:p.His1529Tyr
XM_017028905.2:c.4510C>T	XP_016884394.1:p.His1504Tyr
NM_002972.4:c.4558C>T MANE Select	NP_002963.2:p.His1520Tyr