Canonical Allele Identifier: CA412195430

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893566G>C (hg19) ; chr22:g.50455137G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455137G>C , CM000684.2:g.50455137G>C	GRCh38
NC_000022.10:g.50893566G>C , CM000684.1:g.50893566G>C	GRCh37
NC_000022.9:g.49240432G>C	NCBI36
NG_041810.1:g.24935C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4482C>G	ENSP00000252027.8:p.His1494Gln
ENST00000418590.4:c.192C>G	ENSP00000401538.2:p.His64Gln
ENST00000470434.2:n.963C>G
ENST00000684986.1:c.4563C>G	ENSP00000509117.1:p.His1521Gln
ENST00000685180.1:n.2488+5397C>G
ENST00000685390.1:n.2528C>G
ENST00000685411.1:n.310C>G
ENST00000685592.1:c.794C>G
ENST00000685809.1:c.4473C>G	ENSP00000508863.1:p.His1491Gln
ENST00000686029.1:c.638C>G
ENST00000686191.1:n.3760C>G
ENST00000686222.1:c.*3982C>G	ENSP00000508737.1:n.*3982C>G
ENST00000686321.1:c.656C>G
ENST00000686427.1:c.*1495C>G	ENSP00000510379.1:n.*1495C>G
ENST00000686758.1:n.2303C>G
ENST00000686801.1:c.4548C>G	ENSP00000509915.1:p.His1516Gln
ENST00000686826.1:n.879C>G
ENST00000687016.1:c.4461C>G	ENSP00000509074.1:p.His1487Gln
ENST00000687704.1:c.*2285C>G	ENSP00000510454.1:n.*2285C>G
ENST00000688066.1:c.4560C>G	ENSP00000510782.1:p.His1520Gln
ENST00000688124.1:c.*3478C>G	ENSP00000510645.1:n.*3478C>G
ENST00000688848.1:c.*3904C>G	ENSP00000509419.1:n.*3904C>G
ENST00000688985.1:c.1561C>G	ENSP00000510477.1:n.1561C>G
ENST00000689129.1:c.4485C>G	ENSP00000510414.1:p.His1495Gln
ENST00000689177.1:n.5832C>G
ENST00000689849.1:c.656C>G
ENST00000689981.1:c.4560C>G	ENSP00000509035.1:p.His1520Gln
ENST00000690369.1:n.4578C>G
ENST00000690590.1:n.1607C>G
ENST00000690990.1:c.4554C>G	ENSP00000510461.1:p.His1518Gln
ENST00000691233.1:c.4479C>G	ENSP00000509215.1:p.His1493Gln
ENST00000691306.1:c.658C>G
ENST00000691345.1:n.2302+1079C>G
ENST00000691792.1:c.4555-7C>G	ENSP00000509911.1:n.4555-7C>G
ENST00000691959.1:n.5279C>G
ENST00000692844.1:n.1644C>G
ENST00000692946.1:c.656C>G
ENST00000693052.1:c.4578C>G	ENSP00000509558.1:p.His1526Gln
ENST00000693289.1:n.1719C>G
ENST00000693440.1:c.4557C>G	ENSP00000509462.1:p.His1519Gln
ENST00000693499.1:n.5485C>G
ENST00000693591.1:n.3297C>G
ENST00000380817.8:c.4560C>G MANE Select	ENSP00000370196.2:p.His1520Gln
ENST00000348911.10:c.4485C>G	ENSP00000252027.7:p.His1495Gln
ENST00000380817.7:c.4560C>G	ENSP00000370196.2:p.His1520Gln
ENST00000418590.3:c.160C>G
ENST00000470434.1:n.701C>G
NM_002972.3:c.4560C>G	NP_002963.2:p.His1520Gln
XM_005261931.1:c.4563C>G	XP_005261988.1:p.His1521Gln
XM_005261935.1:c.4482C>G	XP_005261992.1:p.His1494Gln
XM_011530707.1:c.4662C>G	XP_011529009.1:p.His1554Gln
XM_011530708.1:c.4614C>G	XP_011529010.1:p.His1538Gln
XM_011530709.1:c.4590C>G	XP_011529011.1:p.His1530Gln
XM_011530710.1:c.4587C>G	XP_011529012.1:p.His1529Gln
XM_011530711.1:c.4587C>G	XP_011529013.1:p.His1529Gln
XR_938344.1:n.4680C>G
NM_001365819.1:c.4485C>G	NP_001352748.1:p.His1495Gln
XM_005261935.2:c.4482C>G	XP_005261992.1:p.His1494Gln
XM_011530709.2:c.4590C>G	XP_011529011.1:p.His1530Gln
XM_011530710.2:c.4587C>G	XP_011529012.1:p.His1529Gln
XM_017028905.2:c.4512C>G	XP_016884394.1:p.His1504Gln
NM_002972.4:c.4560C>G MANE Select	NP_002963.2:p.His1520Gln