Canonical Allele Identifier: CA2657543830

Gene: SBF1

Linked Data

• gnomAD v4: 22-50454980-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454980G>A , CM000684.2:g.50454980G>A	GRCh38
NC_000022.10:g.50893409G>A , CM000684.1:g.50893409G>A	GRCh37
NC_000022.9:g.49240275G>A	NCBI36
NG_041810.1:g.25092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4604-36C>T	ENSP00000252027.8:n.4604-36C>T
ENST00000418590.4:c.314-36C>T	ENSP00000401538.2:n.314-36C>T
ENST00000470434.2:n.1085-36C>T
ENST00000684986.1:c.4685-36C>T	ENSP00000509117.1:n.4685-36C>T
ENST00000685180.1:n.2488+5554C>T
ENST00000685390.1:n.2650-36C>T
ENST00000685411.1:n.432-36C>T
ENST00000685592.1:c.916-36C>T
ENST00000685809.1:c.4595-36C>T	ENSP00000508863.1:n.4595-36C>T
ENST00000686029.1:c.760-36C>T
ENST00000686191.1:n.3882-36C>T
ENST00000686222.1:c.*4104-36C>T	ENSP00000508737.1:n.*4104-36C>T
ENST00000686321.1:c.778-36C>T
ENST00000686427.1:c.*1617-36C>T	ENSP00000510379.1:n.*1617-36C>T
ENST00000686758.1:n.2460C>T
ENST00000686801.1:c.4670-36C>T	ENSP00000509915.1:n.4670-36C>T
ENST00000686826.1:n.1001-36C>T
ENST00000687016.1:c.4583-36C>T	ENSP00000509074.1:n.4583-36C>T
ENST00000687704.1:c.*2407-36C>T	ENSP00000510454.1:n.*2407-36C>T
ENST00000688066.1:c.4682-36C>T	ENSP00000510782.1:n.4682-36C>T
ENST00000688124.1:c.*3600-36C>T	ENSP00000510645.1:n.*3600-36C>T
ENST00000688848.1:c.*4026-36C>T	ENSP00000509419.1:n.*4026-36C>T
ENST00000688985.1:c.1683-36C>T	ENSP00000510477.1:n.1683-36C>T
ENST00000689129.1:c.4607-36C>T	ENSP00000510414.1:n.4607-36C>T
ENST00000689177.1:n.5954-36C>T
ENST00000689849.1:c.778-36C>T
ENST00000689981.1:c.4682-36C>T	ENSP00000509035.1:n.4682-36C>T
ENST00000690369.1:n.4700-36C>T
ENST00000690590.1:n.1729-36C>T
ENST00000690990.1:c.4676-36C>T	ENSP00000510461.1:n.4676-36C>T
ENST00000691233.1:c.4601-36C>T	ENSP00000509215.1:n.4601-36C>T
ENST00000691306.1:c.779+36C>T
ENST00000691345.1:n.2302+1236C>T
ENST00000691792.1:c.4670-36C>T	ENSP00000509911.1:n.4670-36C>T
ENST00000691959.1:n.5401-36C>T
ENST00000692844.1:n.1766-36C>T
ENST00000692946.1:c.778-36C>T
ENST00000693052.1:c.4700-36C>T	ENSP00000509558.1:n.4700-36C>T
ENST00000693289.1:n.1841-36C>T
ENST00000693440.1:c.4679-36C>T	ENSP00000509462.1:n.4679-36C>T
ENST00000693499.1:n.5642C>T
ENST00000693591.1:n.3454C>T
ENST00000380817.8:c.4682-36C>T MANE Select	ENSP00000370196.2:n.4682-36C>T
ENST00000348911.10:c.4607-36C>T	ENSP00000252027.7:n.4607-36C>T
ENST00000380817.7:c.4682-36C>T	ENSP00000370196.2:n.4682-36C>T
ENST00000418590.3:c.282-36C>T
ENST00000470434.1:n.823-36C>T
NM_002972.3:c.4682-36C>T	NP_002963.2:n.4682-36C>T
XM_005261931.1:c.4685-36C>T	XP_005261988.1:n.4685-36C>T
XM_005261935.1:c.4604-36C>T	XP_005261992.1:n.4604-36C>T
XM_011530707.1:c.4784-36C>T	XP_011529009.1:n.4784-36C>T
XM_011530708.1:c.4736-36C>T	XP_011529010.1:n.4736-36C>T
XM_011530709.1:c.4712-36C>T	XP_011529011.1:n.4712-36C>T
XM_011530710.1:c.4709-36C>T	XP_011529012.1:n.4709-36C>T
XM_011530711.1:c.4709-36C>T	XP_011529013.1:n.4709-36C>T
XR_938344.1:n.4802-36C>T
NM_001365819.1:c.4607-36C>T	NP_001352748.1:n.4607-36C>T
XM_005261935.2:c.4604-36C>T	XP_005261992.1:n.4604-36C>T
XM_011530709.2:c.4712-36C>T	XP_011529011.1:n.4712-36C>T
XM_011530710.2:c.4709-36C>T	XP_011529012.1:n.4709-36C>T
XM_017028905.2:c.4634-36C>T	XP_016884394.1:n.4634-36C>T
NM_002972.4:c.4682-36C>T MANE Select	NP_002963.2:n.4682-36C>T