Canonical Allele Identifier: CA2657543540

Gene: SBF1

Linked Data

• gnomAD v4: 22-50454747-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454747G>C , CM000684.2:g.50454747G>C	GRCh38
NC_000022.10:g.50893176G>C , CM000684.1:g.50893176G>C	GRCh37
NC_000022.9:g.49240042G>C	NCBI36
NG_041810.1:g.25325C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4735-5C>G	ENSP00000252027.8:n.4735-5C>G
ENST00000418590.4:c.445-41C>G	ENSP00000401538.2:n.445-41C>G
ENST00000470434.2:n.1216-5C>G
ENST00000684986.1:c.4816-5C>G	ENSP00000509117.1:n.4816-5C>G
ENST00000685180.1:n.2488+5787C>G
ENST00000685390.1:n.2781-22C>G
ENST00000685411.1:n.563-5C>G
ENST00000685592.1:c.1047-5C>G
ENST00000685809.1:c.4726-5C>G	ENSP00000508863.1:n.4726-5C>G
ENST00000686191.1:n.4013-5C>G
ENST00000686222.1:c.*4235-5C>G	ENSP00000508737.1:n.*4235-5C>G
ENST00000686321.1:c.909-5C>G
ENST00000686427.1:c.*1748-5C>G	ENSP00000510379.1:n.*1748-5C>G
ENST00000686758.1:n.2627-5C>G
ENST00000686801.1:c.4801-5C>G	ENSP00000509915.1:n.4801-5C>G
ENST00000686826.1:n.1132-5C>G
ENST00000687016.1:c.4714-5C>G	ENSP00000509074.1:n.4714-5C>G
ENST00000687704.1:c.*2604C>G	ENSP00000510454.1:n.*2604C>G
ENST00000688066.1:c.4813-5C>G	ENSP00000510782.1:n.4813-5C>G
ENST00000688124.1:c.*3731-22C>G	ENSP00000510645.1:n.*3731-22C>G
ENST00000688848.1:c.*4157-5C>G	ENSP00000509419.1:n.*4157-5C>G
ENST00000688985.1:c.1814-5C>G	ENSP00000510477.1:n.1814-5C>G
ENST00000689129.1:c.4738-5C>G	ENSP00000510414.1:n.4738-5C>G
ENST00000689177.1:n.6085-5C>G
ENST00000689849.1:c.909-5C>G
ENST00000689981.1:c.4813-5C>G	ENSP00000509035.1:n.4813-5C>G
ENST00000690369.1:n.4831-5C>G
ENST00000690590.1:n.1860-5C>G
ENST00000690990.1:c.4807-5C>G	ENSP00000510461.1:n.4807-5C>G
ENST00000691233.1:c.4732-5C>G	ENSP00000509215.1:n.4732-5C>G
ENST00000691306.1:c.894-5C>G
ENST00000691345.1:n.2302+1469C>G
ENST00000691792.1:c.4801-5C>G	ENSP00000509911.1:n.4801-5C>G
ENST00000691959.1:n.5532-5C>G
ENST00000692844.1:n.1897-5C>G
ENST00000692946.1:c.909-5C>G
ENST00000693052.1:c.4831-5C>G	ENSP00000509558.1:n.4831-5C>G
ENST00000693289.1:n.1972-5C>G
ENST00000693440.1:c.4810-5C>G	ENSP00000509462.1:n.4810-5C>G
ENST00000693499.1:n.5809-5C>G
ENST00000693591.1:n.3621-5C>G
ENST00000380817.8:c.4813-5C>G MANE Select	ENSP00000370196.2:n.4813-5C>G
ENST00000348911.10:c.4738-5C>G	ENSP00000252027.7:n.4738-5C>G
ENST00000380817.7:c.4813-5C>G	ENSP00000370196.2:n.4813-5C>G
ENST00000418590.3:c.413-41C>G
ENST00000470434.1:n.954-5C>G
NM_002972.3:c.4813-5C>G	NP_002963.2:n.4813-5C>G
XM_005261931.1:c.4816-5C>G	XP_005261988.1:n.4816-5C>G
XM_005261935.1:c.4735-5C>G	XP_005261992.1:n.4735-5C>G
XM_011530707.1:c.4915-5C>G	XP_011529009.1:n.4915-5C>G
XM_011530708.1:c.4867-5C>G	XP_011529010.1:n.4867-5C>G
XM_011530709.1:c.4843-5C>G	XP_011529011.1:n.4843-5C>G
XM_011530710.1:c.4840-5C>G	XP_011529012.1:n.4840-5C>G
XM_011530711.1:c.4840-5C>G	XP_011529013.1:n.4840-5C>G
XR_938344.1:n.4933-5C>G
NM_001365819.1:c.4738-5C>G	NP_001352748.1:n.4738-5C>G
XM_005261935.2:c.4735-5C>G	XP_005261992.1:n.4735-5C>G
XM_011530709.2:c.4843-5C>G	XP_011529011.1:n.4843-5C>G
XM_011530710.2:c.4840-5C>G	XP_011529012.1:n.4840-5C>G
XM_017028905.2:c.4765-5C>G	XP_016884394.1:n.4765-5C>G
NM_002972.4:c.4813-5C>G MANE Select	NP_002963.2:n.4813-5C>G