Canonical Allele Identifier: CA325527990

Gene: SBF1

Linked Data

• ClinVar Variation Id: 1936067
• ClinVar RCV Id: RCV002636222
• dbSNP Id: rs370152277
• gnomAD v2: 22-50893273-G-C
• gnomAD v3: 22-50454844-G-C
• gnomAD v4: 22-50454844-G-C
• MyVariant Identifiers: chr22:g.50893273G>C (hg19) ; chr22:g.50454844G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454844G>C , CM000684.2:g.50454844G>C	GRCh38
NC_000022.10:g.50893273G>C , CM000684.1:g.50893273G>C	GRCh37
NC_000022.9:g.49240139G>C	NCBI36
NG_041810.1:g.25228C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4704C>G	ENSP00000252027.8:p.His1568Gln
ENST00000418590.4:c.414C>G	ENSP00000401538.2:p.His138Gln
ENST00000470434.2:n.1185C>G
ENST00000684986.1:c.4785C>G	ENSP00000509117.1:p.His1595Gln
ENST00000685180.1:n.2488+5690C>G
ENST00000685390.1:n.2750C>G
ENST00000685411.1:n.532C>G
ENST00000685592.1:c.1016C>G
ENST00000685809.1:c.4695C>G	ENSP00000508863.1:p.His1565Gln
ENST00000686029.1:c.860C>G
ENST00000686191.1:n.3982C>G
ENST00000686222.1:c.*4204C>G	ENSP00000508737.1:n.*4204C>G
ENST00000686321.1:c.878C>G
ENST00000686427.1:c.*1717C>G	ENSP00000510379.1:n.*1717C>G
ENST00000686758.1:n.2596C>G
ENST00000686801.1:c.4770C>G	ENSP00000509915.1:p.His1590Gln
ENST00000686826.1:n.1101C>G
ENST00000687016.1:c.4683C>G	ENSP00000509074.1:p.His1561Gln
ENST00000687704.1:c.*2507C>G	ENSP00000510454.1:n.*2507C>G
ENST00000688066.1:c.4782C>G	ENSP00000510782.1:p.His1594Gln
ENST00000688124.1:c.*3700C>G	ENSP00000510645.1:n.*3700C>G
ENST00000688848.1:c.*4126C>G	ENSP00000509419.1:n.*4126C>G
ENST00000688985.1:c.1783C>G	ENSP00000510477.1:n.1783C>G
ENST00000689129.1:c.4707C>G	ENSP00000510414.1:p.His1569Gln
ENST00000689177.1:n.6054C>G
ENST00000689849.1:c.878C>G
ENST00000689981.1:c.4782C>G	ENSP00000509035.1:p.His1594Gln
ENST00000690369.1:n.4800C>G
ENST00000690590.1:n.1829C>G
ENST00000690990.1:c.4776C>G	ENSP00000510461.1:p.His1592Gln
ENST00000691233.1:c.4701C>G	ENSP00000509215.1:p.His1567Gln
ENST00000691306.1:c.863C>G
ENST00000691345.1:n.2302+1372C>G
ENST00000691792.1:c.4770C>G	ENSP00000509911.1:p.His1590Gln
ENST00000691959.1:n.5501C>G
ENST00000692844.1:n.1866C>G
ENST00000692946.1:c.878C>G
ENST00000693052.1:c.4800C>G	ENSP00000509558.1:p.His1600Gln
ENST00000693289.1:n.1941C>G
ENST00000693440.1:c.4779C>G	ENSP00000509462.1:p.His1593Gln
ENST00000693499.1:n.5778C>G
ENST00000693591.1:n.3590C>G
ENST00000380817.8:c.4782C>G MANE Select	ENSP00000370196.2:p.His1594Gln
ENST00000348911.10:c.4707C>G	ENSP00000252027.7:p.His1569Gln
ENST00000380817.7:c.4782C>G	ENSP00000370196.2:p.His1594Gln
ENST00000418590.3:c.382C>G
ENST00000470434.1:n.923C>G
NM_002972.3:c.4782C>G	NP_002963.2:p.His1594Gln
XM_005261931.1:c.4785C>G	XP_005261988.1:p.His1595Gln
XM_005261935.1:c.4704C>G	XP_005261992.1:p.His1568Gln
XM_011530707.1:c.4884C>G	XP_011529009.1:p.His1628Gln
XM_011530708.1:c.4836C>G	XP_011529010.1:p.His1612Gln
XM_011530709.1:c.4812C>G	XP_011529011.1:p.His1604Gln
XM_011530710.1:c.4809C>G	XP_011529012.1:p.His1603Gln
XM_011530711.1:c.4809C>G	XP_011529013.1:p.His1603Gln
XR_938344.1:n.4902C>G
NM_001365819.1:c.4707C>G	NP_001352748.1:p.His1569Gln
XM_005261935.2:c.4704C>G	XP_005261992.1:p.His1568Gln
XM_011530709.2:c.4812C>G	XP_011529011.1:p.His1604Gln
XM_011530710.2:c.4809C>G	XP_011529012.1:p.His1603Gln
XM_017028905.2:c.4734C>G	XP_016884394.1:p.His1578Gln
NM_002972.4:c.4782C>G MANE Select	NP_002963.2:p.His1594Gln