Canonical Allele Identifier: CA10316177

Gene: SBF1

Linked Data

• dbSNP Id: rs759318705
• ExAC: 22:50893456 C / T
• gnomAD v2: 22-50893456-C-T
• gnomAD v4: 22-50455027-C-T
• MyVariant Identifiers: chr22:g.50893456C>T (hg19) ; chr22:g.50455027C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455027C>T , CM000684.2:g.50455027C>T	GRCh38
NC_000022.10:g.50893456C>T , CM000684.1:g.50893456C>T	GRCh37
NC_000022.9:g.49240322C>T	NCBI36
NG_041810.1:g.25045G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4592G>A	ENSP00000252027.8:p.Arg1531His
ENST00000418590.4:c.302G>A	ENSP00000401538.2:p.Arg101His
ENST00000470434.2:n.1073G>A
ENST00000684986.1:c.4673G>A	ENSP00000509117.1:p.Arg1558His
ENST00000685180.1:n.2488+5507G>A
ENST00000685390.1:n.2638G>A
ENST00000685411.1:n.420G>A
ENST00000685592.1:c.904G>A
ENST00000685809.1:c.4583G>A	ENSP00000508863.1:p.Arg1528His
ENST00000686029.1:c.748G>A
ENST00000686191.1:n.3870G>A
ENST00000686222.1:c.*4092G>A	ENSP00000508737.1:n.*4092G>A
ENST00000686321.1:c.766G>A
ENST00000686427.1:c.*1605G>A	ENSP00000510379.1:n.*1605G>A
ENST00000686758.1:n.2413G>A
ENST00000686801.1:c.4658G>A	ENSP00000509915.1:p.Arg1553His
ENST00000686826.1:n.989G>A
ENST00000687016.1:c.4571G>A	ENSP00000509074.1:p.Arg1524His
ENST00000687704.1:c.*2395G>A	ENSP00000510454.1:n.*2395G>A
ENST00000688066.1:c.4670G>A	ENSP00000510782.1:p.Arg1557His
ENST00000688124.1:c.*3588G>A	ENSP00000510645.1:n.*3588G>A
ENST00000688848.1:c.*4014G>A	ENSP00000509419.1:n.*4014G>A
ENST00000688985.1:c.1671G>A	ENSP00000510477.1:n.1671G>A
ENST00000689129.1:c.4595G>A	ENSP00000510414.1:p.Arg1532His
ENST00000689177.1:n.5942G>A
ENST00000689849.1:c.766G>A
ENST00000689981.1:c.4670G>A	ENSP00000509035.1:p.Arg1557His
ENST00000690369.1:n.4688G>A
ENST00000690590.1:n.1717G>A
ENST00000690990.1:c.4664G>A	ENSP00000510461.1:p.Arg1555His
ENST00000691233.1:c.4589G>A	ENSP00000509215.1:p.Arg1530His
ENST00000691306.1:c.768G>A
ENST00000691345.1:n.2302+1189G>A
ENST00000691792.1:c.4658G>A	ENSP00000509911.1:p.Arg1553His
ENST00000691959.1:n.5389G>A
ENST00000692844.1:n.1754G>A
ENST00000692946.1:c.766G>A
ENST00000693052.1:c.4688G>A	ENSP00000509558.1:p.Arg1563His
ENST00000693289.1:n.1829G>A
ENST00000693440.1:c.4667G>A	ENSP00000509462.1:p.Arg1556His
ENST00000693499.1:n.5595G>A
ENST00000693591.1:n.3407G>A
ENST00000380817.8:c.4670G>A MANE Select	ENSP00000370196.2:p.Arg1557His
ENST00000348911.10:c.4595G>A	ENSP00000252027.7:p.Arg1532His
ENST00000380817.7:c.4670G>A	ENSP00000370196.2:p.Arg1557His
ENST00000418590.3:c.270G>A
ENST00000470434.1:n.811G>A
NM_002972.3:c.4670G>A	NP_002963.2:p.Arg1557His
XM_005261931.1:c.4673G>A	XP_005261988.1:p.Arg1558His
XM_005261935.1:c.4592G>A	XP_005261992.1:p.Arg1531His
XM_011530707.1:c.4772G>A	XP_011529009.1:p.Arg1591His
XM_011530708.1:c.4724G>A	XP_011529010.1:p.Arg1575His
XM_011530709.1:c.4700G>A	XP_011529011.1:p.Arg1567His
XM_011530710.1:c.4697G>A	XP_011529012.1:p.Arg1566His
XM_011530711.1:c.4697G>A	XP_011529013.1:p.Arg1566His
XR_938344.1:n.4790G>A
NM_001365819.1:c.4595G>A	NP_001352748.1:p.Arg1532His
XM_005261935.2:c.4592G>A	XP_005261992.1:p.Arg1531His
XM_011530709.2:c.4700G>A	XP_011529011.1:p.Arg1567His
XM_011530710.2:c.4697G>A	XP_011529012.1:p.Arg1566His
XM_017028905.2:c.4622G>A	XP_016884394.1:p.Arg1541His
NM_002972.4:c.4670G>A MANE Select	NP_002963.2:p.Arg1557His