Canonical Allele Identifier: CA10316168

Gene: SBF1

Linked Data

• dbSNP Id: rs371539498
• ExAC: 22:50893414 G / A
• gnomAD v2: 22-50893414-G-A
• gnomAD v3: 22-50454985-G-A
• gnomAD v4: 22-50454985-G-A
• MyVariant Identifiers: chr22:g.50893414G>A (hg19) ; chr22:g.50454985G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454985G>A , CM000684.2:g.50454985G>A	GRCh38
NC_000022.10:g.50893414G>A , CM000684.1:g.50893414G>A	GRCh37
NC_000022.9:g.49240280G>A	NCBI36
NG_041810.1:g.25087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4603+31C>T	ENSP00000252027.8:n.4603+31C>T
ENST00000418590.4:c.313+31C>T	ENSP00000401538.2:n.313+31C>T
ENST00000470434.2:n.1084+31C>T
ENST00000684986.1:c.4684+31C>T	ENSP00000509117.1:n.4684+31C>T
ENST00000685180.1:n.2488+5549C>T
ENST00000685390.1:n.2649+31C>T
ENST00000685411.1:n.431+31C>T
ENST00000685592.1:c.915+31C>T
ENST00000685809.1:c.4594+31C>T	ENSP00000508863.1:n.4594+31C>T
ENST00000686029.1:c.759+31C>T
ENST00000686191.1:n.3881+31C>T
ENST00000686222.1:c.*4103+31C>T	ENSP00000508737.1:n.*4103+31C>T
ENST00000686321.1:c.777+31C>T
ENST00000686427.1:c.*1616+31C>T	ENSP00000510379.1:n.*1616+31C>T
ENST00000686758.1:n.2455C>T
ENST00000686801.1:c.4669+31C>T	ENSP00000509915.1:n.4669+31C>T
ENST00000686826.1:n.1000+31C>T
ENST00000687016.1:c.4582+31C>T	ENSP00000509074.1:n.4582+31C>T
ENST00000687704.1:c.*2406+31C>T	ENSP00000510454.1:n.*2406+31C>T
ENST00000688066.1:c.4681+31C>T	ENSP00000510782.1:n.4681+31C>T
ENST00000688124.1:c.*3599+31C>T	ENSP00000510645.1:n.*3599+31C>T
ENST00000688848.1:c.*4025+31C>T	ENSP00000509419.1:n.*4025+31C>T
ENST00000688985.1:c.1682+31C>T	ENSP00000510477.1:n.1682+31C>T
ENST00000689129.1:c.4606+31C>T	ENSP00000510414.1:n.4606+31C>T
ENST00000689177.1:n.5953+31C>T
ENST00000689849.1:c.777+31C>T
ENST00000689981.1:c.4681+31C>T	ENSP00000509035.1:n.4681+31C>T
ENST00000690369.1:n.4699+31C>T
ENST00000690590.1:n.1728+31C>T
ENST00000690990.1:c.4675+31C>T	ENSP00000510461.1:n.4675+31C>T
ENST00000691233.1:c.4600+31C>T	ENSP00000509215.1:n.4600+31C>T
ENST00000691306.1:c.779+31C>T
ENST00000691345.1:n.2302+1231C>T
ENST00000691792.1:c.4669+31C>T	ENSP00000509911.1:n.4669+31C>T
ENST00000691959.1:n.5400+31C>T
ENST00000692844.1:n.1765+31C>T
ENST00000692946.1:c.777+31C>T
ENST00000693052.1:c.4699+31C>T	ENSP00000509558.1:n.4699+31C>T
ENST00000693289.1:n.1840+31C>T
ENST00000693440.1:c.4678+31C>T	ENSP00000509462.1:n.4678+31C>T
ENST00000693499.1:n.5637C>T
ENST00000693591.1:n.3449C>T
ENST00000380817.8:c.4681+31C>T MANE Select	ENSP00000370196.2:n.4681+31C>T
ENST00000348911.10:c.4606+31C>T	ENSP00000252027.7:n.4606+31C>T
ENST00000380817.7:c.4681+31C>T	ENSP00000370196.2:n.4681+31C>T
ENST00000418590.3:c.281+31C>T
ENST00000470434.1:n.822+31C>T
NM_002972.3:c.4681+31C>T	NP_002963.2:n.4681+31C>T
XM_005261931.1:c.4684+31C>T	XP_005261988.1:n.4684+31C>T
XM_005261935.1:c.4603+31C>T	XP_005261992.1:n.4603+31C>T
XM_011530707.1:c.4783+31C>T	XP_011529009.1:n.4783+31C>T
XM_011530708.1:c.4735+31C>T	XP_011529010.1:n.4735+31C>T
XM_011530709.1:c.4711+31C>T	XP_011529011.1:n.4711+31C>T
XM_011530710.1:c.4708+31C>T	XP_011529012.1:n.4708+31C>T
XM_011530711.1:c.4708+31C>T	XP_011529013.1:n.4708+31C>T
XR_938344.1:n.4801+31C>T
NM_001365819.1:c.4606+31C>T	NP_001352748.1:n.4606+31C>T
XM_005261935.2:c.4603+31C>T	XP_005261992.1:n.4603+31C>T
XM_011530709.2:c.4711+31C>T	XP_011529011.1:n.4711+31C>T
XM_011530710.2:c.4708+31C>T	XP_011529012.1:n.4708+31C>T
XM_017028905.2:c.4633+31C>T	XP_016884394.1:n.4633+31C>T
NM_002972.4:c.4681+31C>T MANE Select	NP_002963.2:n.4681+31C>T