Canonical Allele Identifier: CA412195312

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455104-C-G
• MyVariant Identifiers: chr22:g.50893533C>G (hg19) ; chr22:g.50455104C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455104C>G , CM000684.2:g.50455104C>G	GRCh38
NC_000022.10:g.50893533C>G , CM000684.1:g.50893533C>G	GRCh37
NC_000022.9:g.49240399C>G	NCBI36
NG_041810.1:g.24968G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4515G>C	ENSP00000252027.8:p.Gln1505His
ENST00000418590.4:c.225G>C	ENSP00000401538.2:p.Gln75His
ENST00000470434.2:n.996G>C
ENST00000684986.1:c.4596G>C	ENSP00000509117.1:p.Gln1532His
ENST00000685180.1:n.2488+5430G>C
ENST00000685390.1:n.2561G>C
ENST00000685411.1:n.343G>C
ENST00000685592.1:c.827G>C
ENST00000685809.1:c.4506G>C	ENSP00000508863.1:p.Gln1502His
ENST00000686029.1:c.671G>C
ENST00000686191.1:n.3793G>C
ENST00000686222.1:c.*4015G>C	ENSP00000508737.1:n.*4015G>C
ENST00000686321.1:c.689G>C
ENST00000686427.1:c.*1528G>C	ENSP00000510379.1:n.*1528G>C
ENST00000686758.1:n.2336G>C
ENST00000686801.1:c.4581G>C	ENSP00000509915.1:p.Gln1527His
ENST00000686826.1:n.912G>C
ENST00000687016.1:c.4494G>C	ENSP00000509074.1:p.Gln1498His
ENST00000687704.1:c.*2318G>C	ENSP00000510454.1:n.*2318G>C
ENST00000688066.1:c.4593G>C	ENSP00000510782.1:p.Gln1531His
ENST00000688124.1:c.*3511G>C	ENSP00000510645.1:n.*3511G>C
ENST00000688848.1:c.*3937G>C	ENSP00000509419.1:n.*3937G>C
ENST00000688985.1:c.1594G>C	ENSP00000510477.1:n.1594G>C
ENST00000689129.1:c.4518G>C	ENSP00000510414.1:p.Gln1506His
ENST00000689177.1:n.5865G>C
ENST00000689849.1:c.689G>C
ENST00000689981.1:c.4593G>C	ENSP00000509035.1:p.Gln1531His
ENST00000690369.1:n.4611G>C
ENST00000690590.1:n.1640G>C
ENST00000690990.1:c.4587G>C	ENSP00000510461.1:p.Gln1529His
ENST00000691233.1:c.4512G>C	ENSP00000509215.1:p.Gln1504His
ENST00000691306.1:c.691G>C
ENST00000691345.1:n.2302+1112G>C
ENST00000691792.1:c.4581G>C	ENSP00000509911.1:p.Gln1527His
ENST00000691959.1:n.5312G>C
ENST00000692844.1:n.1677G>C
ENST00000692946.1:c.689G>C
ENST00000693052.1:c.4611G>C	ENSP00000509558.1:p.Gln1537His
ENST00000693289.1:n.1752G>C
ENST00000693440.1:c.4590G>C	ENSP00000509462.1:p.Gln1530His
ENST00000693499.1:n.5518G>C
ENST00000693591.1:n.3330G>C
ENST00000380817.8:c.4593G>C MANE Select	ENSP00000370196.2:p.Gln1531His
ENST00000348911.10:c.4518G>C	ENSP00000252027.7:p.Gln1506His
ENST00000380817.7:c.4593G>C	ENSP00000370196.2:p.Gln1531His
ENST00000418590.3:c.193G>C
ENST00000470434.1:n.734G>C
NM_002972.3:c.4593G>C	NP_002963.2:p.Gln1531His
XM_005261931.1:c.4596G>C	XP_005261988.1:p.Gln1532His
XM_005261935.1:c.4515G>C	XP_005261992.1:p.Gln1505His
XM_011530707.1:c.4695G>C	XP_011529009.1:p.Gln1565His
XM_011530708.1:c.4647G>C	XP_011529010.1:p.Gln1549His
XM_011530709.1:c.4623G>C	XP_011529011.1:p.Gln1541His
XM_011530710.1:c.4620G>C	XP_011529012.1:p.Gln1540His
XM_011530711.1:c.4620G>C	XP_011529013.1:p.Gln1540His
XR_938344.1:n.4713G>C
NM_001365819.1:c.4518G>C	NP_001352748.1:p.Gln1506His
XM_005261935.2:c.4515G>C	XP_005261992.1:p.Gln1505His
XM_011530709.2:c.4623G>C	XP_011529011.1:p.Gln1541His
XM_011530710.2:c.4620G>C	XP_011529012.1:p.Gln1540His
XM_017028905.2:c.4545G>C	XP_016884394.1:p.Gln1515His
NM_002972.4:c.4593G>C MANE Select	NP_002963.2:p.Gln1531His