Canonical Allele Identifier: CA10315820
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50447434C>T , CM000684.2:g.50447434C>T GRCh38
NC_000022.10:g.50885863C>T , CM000684.1:g.50885863C>T GRCh37
NC_000022.9:g.49232729C>T NCBI36
NG_041810.1:g.32638G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348911.11:c.5393G>A ENSP00000252027.8:p.Arg1798His
ENST00000418590.4:c.1067G>A ENSP00000401538.2:p.Arg356His
ENST00000470434.2:n.1874G>A
ENST00000473724.2:n.610G>A
ENST00000684986.1:c.5474G>A ENSP00000509117.1:p.Arg1825His
ENST00000685180.1:n.3082G>A
ENST00000685390.1:n.3422G>A
ENST00000685411.1:n.1844G>A
ENST00000685459.1:c.623G>A ENSP00000509511.1:p.Arg208His
ENST00000685592.1:c.1721G>A
ENST00000685809.1:c.5384G>A ENSP00000508863.1:p.Arg1795His
ENST00000686191.1:n.4671G>A
ENST00000686222.1:c.*4893G>A ENSP00000508737.1:n.*4893G>A
ENST00000686321.1:c.1784G>A
ENST00000686427.1:c.*2403G>A ENSP00000510379.1:n.*2403G>A
ENST00000686758.1:n.3285G>A
ENST00000686801.1:c.*309G>A ENSP00000509915.1:n.*309G>A
ENST00000686826.1:n.1790G>A
ENST00000687016.1:c.5369G>A ENSP00000509074.1:p.Arg1790His
ENST00000687704.1:c.*3267G>A ENSP00000510454.1:n.*3267G>A
ENST00000688066.1:c.5471G>A ENSP00000510782.1:p.Arg1824His
ENST00000688124.1:c.*4372G>A ENSP00000510645.1:n.*4372G>A
ENST00000688381.1:c.604-12G>A ENSP00000508847.1:n.604-12G>A
ENST00000688848.1:c.*4815G>A ENSP00000509419.1:n.*4815G>A
ENST00000688985.1:c.2472G>A ENSP00000510477.1:n.2472G>A
ENST00000689129.1:c.5396G>A ENSP00000510414.1:p.Arg1799His
ENST00000689177.1:n.6808G>A
ENST00000689849.1:c.1556G>A
ENST00000689981.1:c.5471G>A ENSP00000509035.1:p.Arg1824His
ENST00000690369.1:n.5489G>A
ENST00000690590.1:n.2518G>A
ENST00000690990.1:c.5465G>A ENSP00000510461.1:p.Arg1822His
ENST00000691233.1:c.5390G>A ENSP00000509215.1:p.Arg1797His
ENST00000691345.1:n.2798G>A
ENST00000691792.1:c.5456G>A ENSP00000509911.1:p.Arg1819His
ENST00000691959.1:n.6813G>A
ENST00000692844.1:n.2555G>A
ENST00000692946.1:c.1567G>A
ENST00000693052.1:c.5489G>A ENSP00000509558.1:p.Arg1830His
ENST00000693068.1:c.554G>A ENSP00000509997.1:p.Arg185His
ENST00000693440.1:c.5468G>A ENSP00000509462.1:p.Arg1823His
ENST00000693591.1:n.4279G>A
ENST00000380817.8:c.5471G>A MANE Select ENSP00000370196.2:p.Arg1824His
ENST00000348911.10:c.5396G>A ENSP00000252027.7:p.Arg1799His
ENST00000380817.7:c.5471G>A ENSP00000370196.2:p.Arg1824His
ENST00000418590.3:c.1035G>A
ENST00000470434.1:n.1612G>A
ENST00000473724.1:n.176G>A
NM_002972.3:c.5471G>A NP_002963.2:p.Arg1824His
XM_005261931.1:c.5474G>A XP_005261988.1:p.Arg1825His
XM_005261935.1:c.5393G>A XP_005261992.1:p.Arg1798His
XM_011530707.1:c.5573G>A XP_011529009.1:p.Arg1858His
XM_011530708.1:c.5525G>A XP_011529010.1:p.Arg1842His
XM_011530709.1:c.5501G>A XP_011529011.1:p.Arg1834His
XM_011530710.1:c.5498G>A XP_011529012.1:p.Arg1833His
XM_011530711.1:c.5498G>A XP_011529013.1:p.Arg1833His
XR_938344.1:n.5591G>A
NM_001365819.1:c.5396G>A NP_001352748.1:p.Arg1799His
XM_005261935.2:c.5393G>A XP_005261992.1:p.Arg1798His
XM_011530709.2:c.5501G>A XP_011529011.1:p.Arg1834His
XM_011530710.2:c.5498G>A XP_011529012.1:p.Arg1833His
XM_017028905.2:c.5423G>A XP_016884394.1:p.Arg1808His
NM_002972.4:c.5471G>A MANE Select NP_002963.2:p.Arg1824His