Canonical Allele Identifier: CA10316190

Gene: SBF1

Linked Data

• ClinVar Variation Id: 2073896
• ClinVar RCV Id: RCV002975902
• dbSNP Id: rs755292355
• ExAC: 22:50893503 A / G
• gnomAD v2: 22-50893503-A-G
• gnomAD v3: 22-50455074-A-G
• gnomAD v4: 22-50455074-A-G
• MyVariant Identifiers: chr22:g.50893503A>G (hg19) ; chr22:g.50455074A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455074A>G , CM000684.2:g.50455074A>G	GRCh38
NC_000022.10:g.50893503A>G , CM000684.1:g.50893503A>G	GRCh37
NC_000022.9:g.49240369A>G	NCBI36
NG_041810.1:g.24998T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4545T>C	ENSP00000252027.8:p.His1515=
ENST00000418590.4:c.255T>C	ENSP00000401538.2:p.His85=
ENST00000470434.2:n.1026T>C
ENST00000684986.1:c.4626T>C	ENSP00000509117.1:p.His1542=
ENST00000685180.1:n.2488+5460T>C
ENST00000685390.1:n.2591T>C
ENST00000685411.1:n.373T>C
ENST00000685592.1:c.857T>C
ENST00000685809.1:c.4536T>C	ENSP00000508863.1:p.His1512=
ENST00000686029.1:c.701T>C
ENST00000686191.1:n.3823T>C
ENST00000686222.1:c.*4045T>C	ENSP00000508737.1:n.*4045T>C
ENST00000686321.1:c.719T>C
ENST00000686427.1:c.*1558T>C	ENSP00000510379.1:n.*1558T>C
ENST00000686758.1:n.2366T>C
ENST00000686801.1:c.4611T>C	ENSP00000509915.1:p.His1537=
ENST00000686826.1:n.942T>C
ENST00000687016.1:c.4524T>C	ENSP00000509074.1:p.His1508=
ENST00000687704.1:c.*2348T>C	ENSP00000510454.1:n.*2348T>C
ENST00000688066.1:c.4623T>C	ENSP00000510782.1:p.His1541=
ENST00000688124.1:c.*3541T>C	ENSP00000510645.1:n.*3541T>C
ENST00000688848.1:c.*3967T>C	ENSP00000509419.1:n.*3967T>C
ENST00000688985.1:c.1624T>C	ENSP00000510477.1:n.1624T>C
ENST00000689129.1:c.4548T>C	ENSP00000510414.1:p.His1516=
ENST00000689177.1:n.5895T>C
ENST00000689849.1:c.719T>C
ENST00000689981.1:c.4623T>C	ENSP00000509035.1:p.His1541=
ENST00000690369.1:n.4641T>C
ENST00000690590.1:n.1670T>C
ENST00000690990.1:c.4617T>C	ENSP00000510461.1:p.His1539=
ENST00000691233.1:c.4542T>C	ENSP00000509215.1:p.His1514=
ENST00000691306.1:c.721T>C
ENST00000691345.1:n.2302+1142T>C
ENST00000691792.1:c.4611T>C	ENSP00000509911.1:p.His1537=
ENST00000691959.1:n.5342T>C
ENST00000692844.1:n.1707T>C
ENST00000692946.1:c.719T>C
ENST00000693052.1:c.4641T>C	ENSP00000509558.1:p.His1547=
ENST00000693289.1:n.1782T>C
ENST00000693440.1:c.4620T>C	ENSP00000509462.1:p.His1540=
ENST00000693499.1:n.5548T>C
ENST00000693591.1:n.3360T>C
ENST00000380817.8:c.4623T>C MANE Select	ENSP00000370196.2:p.His1541=
ENST00000348911.10:c.4548T>C	ENSP00000252027.7:p.His1516=
ENST00000380817.7:c.4623T>C	ENSP00000370196.2:p.His1541=
ENST00000418590.3:c.223T>C
ENST00000470434.1:n.764T>C
NM_002972.3:c.4623T>C	NP_002963.2:p.His1541=
XM_005261931.1:c.4626T>C	XP_005261988.1:p.His1542=
XM_005261935.1:c.4545T>C	XP_005261992.1:p.His1515=
XM_011530707.1:c.4725T>C	XP_011529009.1:p.His1575=
XM_011530708.1:c.4677T>C	XP_011529010.1:p.His1559=
XM_011530709.1:c.4653T>C	XP_011529011.1:p.His1551=
XM_011530710.1:c.4650T>C	XP_011529012.1:p.His1550=
XM_011530711.1:c.4650T>C	XP_011529013.1:p.His1550=
XR_938344.1:n.4743T>C
NM_001365819.1:c.4548T>C	NP_001352748.1:p.His1516=
XM_005261935.2:c.4545T>C	XP_005261992.1:p.His1515=
XM_011530709.2:c.4653T>C	XP_011529011.1:p.His1551=
XM_011530710.2:c.4650T>C	XP_011529012.1:p.His1550=
XM_017028905.2:c.4575T>C	XP_016884394.1:p.His1525=
NM_002972.4:c.4623T>C MANE Select	NP_002963.2:p.His1541=