Canonical Allele Identifier: CA325528045

Gene: SBF1

Linked Data

• dbSNP Id: rs757896739
• gnomAD v2: 22-50893413-C-T
• gnomAD v4: 22-50454984-C-T
• MyVariant Identifiers: chr22:g.50893413C>T (hg19) ; chr22:g.50454984C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454984C>T , CM000684.2:g.50454984C>T	GRCh38
NC_000022.10:g.50893413C>T , CM000684.1:g.50893413C>T	GRCh37
NC_000022.9:g.49240279C>T	NCBI36
NG_041810.1:g.25088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4603+32G>A	ENSP00000252027.8:n.4603+32G>A
ENST00000418590.4:c.313+32G>A	ENSP00000401538.2:n.313+32G>A
ENST00000470434.2:n.1084+32G>A
ENST00000684986.1:c.4684+32G>A	ENSP00000509117.1:n.4684+32G>A
ENST00000685180.1:n.2488+5550G>A
ENST00000685390.1:n.2649+32G>A
ENST00000685411.1:n.431+32G>A
ENST00000685592.1:c.915+32G>A
ENST00000685809.1:c.4594+32G>A	ENSP00000508863.1:n.4594+32G>A
ENST00000686029.1:c.759+32G>A
ENST00000686191.1:n.3881+32G>A
ENST00000686222.1:c.*4103+32G>A	ENSP00000508737.1:n.*4103+32G>A
ENST00000686321.1:c.777+32G>A
ENST00000686427.1:c.*1616+32G>A	ENSP00000510379.1:n.*1616+32G>A
ENST00000686758.1:n.2456G>A
ENST00000686801.1:c.4669+32G>A	ENSP00000509915.1:n.4669+32G>A
ENST00000686826.1:n.1000+32G>A
ENST00000687016.1:c.4582+32G>A	ENSP00000509074.1:n.4582+32G>A
ENST00000687704.1:c.*2406+32G>A	ENSP00000510454.1:n.*2406+32G>A
ENST00000688066.1:c.4681+32G>A	ENSP00000510782.1:n.4681+32G>A
ENST00000688124.1:c.*3599+32G>A	ENSP00000510645.1:n.*3599+32G>A
ENST00000688848.1:c.*4025+32G>A	ENSP00000509419.1:n.*4025+32G>A
ENST00000688985.1:c.1682+32G>A	ENSP00000510477.1:n.1682+32G>A
ENST00000689129.1:c.4606+32G>A	ENSP00000510414.1:n.4606+32G>A
ENST00000689177.1:n.5953+32G>A
ENST00000689849.1:c.777+32G>A
ENST00000689981.1:c.4681+32G>A	ENSP00000509035.1:n.4681+32G>A
ENST00000690369.1:n.4699+32G>A
ENST00000690590.1:n.1728+32G>A
ENST00000690990.1:c.4675+32G>A	ENSP00000510461.1:n.4675+32G>A
ENST00000691233.1:c.4600+32G>A	ENSP00000509215.1:n.4600+32G>A
ENST00000691306.1:c.779+32G>A
ENST00000691345.1:n.2302+1232G>A
ENST00000691792.1:c.4669+32G>A	ENSP00000509911.1:n.4669+32G>A
ENST00000691959.1:n.5400+32G>A
ENST00000692844.1:n.1765+32G>A
ENST00000692946.1:c.777+32G>A
ENST00000693052.1:c.4699+32G>A	ENSP00000509558.1:n.4699+32G>A
ENST00000693289.1:n.1840+32G>A
ENST00000693440.1:c.4678+32G>A	ENSP00000509462.1:n.4678+32G>A
ENST00000693499.1:n.5638G>A
ENST00000693591.1:n.3450G>A
ENST00000380817.8:c.4681+32G>A MANE Select	ENSP00000370196.2:n.4681+32G>A
ENST00000348911.10:c.4606+32G>A	ENSP00000252027.7:n.4606+32G>A
ENST00000380817.7:c.4681+32G>A	ENSP00000370196.2:n.4681+32G>A
ENST00000418590.3:c.281+32G>A
ENST00000470434.1:n.822+32G>A
NM_002972.3:c.4681+32G>A	NP_002963.2:n.4681+32G>A
XM_005261931.1:c.4684+32G>A	XP_005261988.1:n.4684+32G>A
XM_005261935.1:c.4603+32G>A	XP_005261992.1:n.4603+32G>A
XM_011530707.1:c.4783+32G>A	XP_011529009.1:n.4783+32G>A
XM_011530708.1:c.4735+32G>A	XP_011529010.1:n.4735+32G>A
XM_011530709.1:c.4711+32G>A	XP_011529011.1:n.4711+32G>A
XM_011530710.1:c.4708+32G>A	XP_011529012.1:n.4708+32G>A
XM_011530711.1:c.4708+32G>A	XP_011529013.1:n.4708+32G>A
XR_938344.1:n.4801+32G>A
NM_001365819.1:c.4606+32G>A	NP_001352748.1:n.4606+32G>A
XM_005261935.2:c.4603+32G>A	XP_005261992.1:n.4603+32G>A
XM_011530709.2:c.4711+32G>A	XP_011529011.1:n.4711+32G>A
XM_011530710.2:c.4708+32G>A	XP_011529012.1:n.4708+32G>A
XM_017028905.2:c.4633+32G>A	XP_016884394.1:n.4633+32G>A
NM_002972.4:c.4681+32G>A MANE Select	NP_002963.2:n.4681+32G>A