Canonical Allele Identifier: CA2657543818

Gene: SBF1

Linked Data

• gnomAD v4: 22-50454967-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454967C>T , CM000684.2:g.50454967C>T	GRCh38
NC_000022.10:g.50893396C>T , CM000684.1:g.50893396C>T	GRCh37
NC_000022.9:g.49240262C>T	NCBI36
NG_041810.1:g.25105G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4604-23G>A	ENSP00000252027.8:n.4604-23G>A
ENST00000418590.4:c.314-23G>A	ENSP00000401538.2:n.314-23G>A
ENST00000470434.2:n.1085-23G>A
ENST00000684986.1:c.4685-23G>A	ENSP00000509117.1:n.4685-23G>A
ENST00000685180.1:n.2488+5567G>A
ENST00000685390.1:n.2650-23G>A
ENST00000685411.1:n.432-23G>A
ENST00000685592.1:c.916-23G>A
ENST00000685809.1:c.4595-23G>A	ENSP00000508863.1:n.4595-23G>A
ENST00000686029.1:c.760-23G>A
ENST00000686191.1:n.3882-23G>A
ENST00000686222.1:c.*4104-23G>A	ENSP00000508737.1:n.*4104-23G>A
ENST00000686321.1:c.778-23G>A
ENST00000686427.1:c.*1617-23G>A	ENSP00000510379.1:n.*1617-23G>A
ENST00000686758.1:n.2473G>A
ENST00000686801.1:c.4670-23G>A	ENSP00000509915.1:n.4670-23G>A
ENST00000686826.1:n.1001-23G>A
ENST00000687016.1:c.4583-23G>A	ENSP00000509074.1:n.4583-23G>A
ENST00000687704.1:c.*2407-23G>A	ENSP00000510454.1:n.*2407-23G>A
ENST00000688066.1:c.4682-23G>A	ENSP00000510782.1:n.4682-23G>A
ENST00000688124.1:c.*3600-23G>A	ENSP00000510645.1:n.*3600-23G>A
ENST00000688848.1:c.*4026-23G>A	ENSP00000509419.1:n.*4026-23G>A
ENST00000688985.1:c.1683-23G>A	ENSP00000510477.1:n.1683-23G>A
ENST00000689129.1:c.4607-23G>A	ENSP00000510414.1:n.4607-23G>A
ENST00000689177.1:n.5954-23G>A
ENST00000689849.1:c.778-23G>A
ENST00000689981.1:c.4682-23G>A	ENSP00000509035.1:n.4682-23G>A
ENST00000690369.1:n.4700-23G>A
ENST00000690590.1:n.1729-23G>A
ENST00000690990.1:c.4676-23G>A	ENSP00000510461.1:n.4676-23G>A
ENST00000691233.1:c.4601-23G>A	ENSP00000509215.1:n.4601-23G>A
ENST00000691306.1:c.780-40G>A
ENST00000691345.1:n.2302+1249G>A
ENST00000691792.1:c.4670-23G>A	ENSP00000509911.1:n.4670-23G>A
ENST00000691959.1:n.5401-23G>A
ENST00000692844.1:n.1766-23G>A
ENST00000692946.1:c.778-23G>A
ENST00000693052.1:c.4700-23G>A	ENSP00000509558.1:n.4700-23G>A
ENST00000693289.1:n.1841-23G>A
ENST00000693440.1:c.4679-23G>A	ENSP00000509462.1:n.4679-23G>A
ENST00000693499.1:n.5655G>A
ENST00000693591.1:n.3467G>A
ENST00000380817.8:c.4682-23G>A MANE Select	ENSP00000370196.2:n.4682-23G>A
ENST00000348911.10:c.4607-23G>A	ENSP00000252027.7:n.4607-23G>A
ENST00000380817.7:c.4682-23G>A	ENSP00000370196.2:n.4682-23G>A
ENST00000418590.3:c.282-23G>A
ENST00000470434.1:n.823-23G>A
NM_002972.3:c.4682-23G>A	NP_002963.2:n.4682-23G>A
XM_005261931.1:c.4685-23G>A	XP_005261988.1:n.4685-23G>A
XM_005261935.1:c.4604-23G>A	XP_005261992.1:n.4604-23G>A
XM_011530707.1:c.4784-23G>A	XP_011529009.1:n.4784-23G>A
XM_011530708.1:c.4736-23G>A	XP_011529010.1:n.4736-23G>A
XM_011530709.1:c.4712-23G>A	XP_011529011.1:n.4712-23G>A
XM_011530710.1:c.4709-23G>A	XP_011529012.1:n.4709-23G>A
XM_011530711.1:c.4709-23G>A	XP_011529013.1:n.4709-23G>A
XR_938344.1:n.4802-23G>A
NM_001365819.1:c.4607-23G>A	NP_001352748.1:n.4607-23G>A
XM_005261935.2:c.4604-23G>A	XP_005261992.1:n.4604-23G>A
XM_011530709.2:c.4712-23G>A	XP_011529011.1:n.4712-23G>A
XM_011530710.2:c.4709-23G>A	XP_011529012.1:n.4709-23G>A
XM_017028905.2:c.4634-23G>A	XP_016884394.1:n.4634-23G>A
NM_002972.4:c.4682-23G>A MANE Select	NP_002963.2:n.4682-23G>A