Canonical Allele Identifier: CA412194460

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455077-G-C
• MyVariant Identifiers: chr22:g.50893506G>C (hg19) ; chr22:g.50455077G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455077G>C , CM000684.2:g.50455077G>C	GRCh38
NC_000022.10:g.50893506G>C , CM000684.1:g.50893506G>C	GRCh37
NC_000022.9:g.49240372G>C	NCBI36
NG_041810.1:g.24995C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4542C>G	ENSP00000252027.8:p.His1514Gln
ENST00000418590.4:c.252C>G	ENSP00000401538.2:p.His84Gln
ENST00000470434.2:n.1023C>G
ENST00000684986.1:c.4623C>G	ENSP00000509117.1:p.His1541Gln
ENST00000685180.1:n.2488+5457C>G
ENST00000685390.1:n.2588C>G
ENST00000685411.1:n.370C>G
ENST00000685592.1:c.854C>G
ENST00000685809.1:c.4533C>G	ENSP00000508863.1:p.His1511Gln
ENST00000686029.1:c.698C>G
ENST00000686191.1:n.3820C>G
ENST00000686222.1:c.*4042C>G	ENSP00000508737.1:n.*4042C>G
ENST00000686321.1:c.716C>G
ENST00000686427.1:c.*1555C>G	ENSP00000510379.1:n.*1555C>G
ENST00000686758.1:n.2363C>G
ENST00000686801.1:c.4608C>G	ENSP00000509915.1:p.His1536Gln
ENST00000686826.1:n.939C>G
ENST00000687016.1:c.4521C>G	ENSP00000509074.1:p.His1507Gln
ENST00000687704.1:c.*2345C>G	ENSP00000510454.1:n.*2345C>G
ENST00000688066.1:c.4620C>G	ENSP00000510782.1:p.His1540Gln
ENST00000688124.1:c.*3538C>G	ENSP00000510645.1:n.*3538C>G
ENST00000688848.1:c.*3964C>G	ENSP00000509419.1:n.*3964C>G
ENST00000688985.1:c.1621C>G	ENSP00000510477.1:n.1621C>G
ENST00000689129.1:c.4545C>G	ENSP00000510414.1:p.His1515Gln
ENST00000689177.1:n.5892C>G
ENST00000689849.1:c.716C>G
ENST00000689981.1:c.4620C>G	ENSP00000509035.1:p.His1540Gln
ENST00000690369.1:n.4638C>G
ENST00000690590.1:n.1667C>G
ENST00000690990.1:c.4614C>G	ENSP00000510461.1:p.His1538Gln
ENST00000691233.1:c.4539C>G	ENSP00000509215.1:p.His1513Gln
ENST00000691306.1:c.718C>G
ENST00000691345.1:n.2302+1139C>G
ENST00000691792.1:c.4608C>G	ENSP00000509911.1:p.His1536Gln
ENST00000691959.1:n.5339C>G
ENST00000692844.1:n.1704C>G
ENST00000692946.1:c.716C>G
ENST00000693052.1:c.4638C>G	ENSP00000509558.1:p.His1546Gln
ENST00000693289.1:n.1779C>G
ENST00000693440.1:c.4617C>G	ENSP00000509462.1:p.His1539Gln
ENST00000693499.1:n.5545C>G
ENST00000693591.1:n.3357C>G
ENST00000380817.8:c.4620C>G MANE Select	ENSP00000370196.2:p.His1540Gln
ENST00000348911.10:c.4545C>G	ENSP00000252027.7:p.His1515Gln
ENST00000380817.7:c.4620C>G	ENSP00000370196.2:p.His1540Gln
ENST00000418590.3:c.220C>G
ENST00000470434.1:n.761C>G
NM_002972.3:c.4620C>G	NP_002963.2:p.His1540Gln
XM_005261931.1:c.4623C>G	XP_005261988.1:p.His1541Gln
XM_005261935.1:c.4542C>G	XP_005261992.1:p.His1514Gln
XM_011530707.1:c.4722C>G	XP_011529009.1:p.His1574Gln
XM_011530708.1:c.4674C>G	XP_011529010.1:p.His1558Gln
XM_011530709.1:c.4650C>G	XP_011529011.1:p.His1550Gln
XM_011530710.1:c.4647C>G	XP_011529012.1:p.His1549Gln
XM_011530711.1:c.4647C>G	XP_011529013.1:p.His1549Gln
XR_938344.1:n.4740C>G
NM_001365819.1:c.4545C>G	NP_001352748.1:p.His1515Gln
XM_005261935.2:c.4542C>G	XP_005261992.1:p.His1514Gln
XM_011530709.2:c.4650C>G	XP_011529011.1:p.His1550Gln
XM_011530710.2:c.4647C>G	XP_011529012.1:p.His1549Gln
XM_017028905.2:c.4572C>G	XP_016884394.1:p.His1524Gln
NM_002972.4:c.4620C>G MANE Select	NP_002963.2:p.His1540Gln