Canonical Allele Identifier: CA10316103

Gene: SBF1

Linked Data

• ClinVar Variation Id: 2683578
• ClinVar RCV Id: RCV003480398
• dbSNP Id: rs757006253
• ExAC: 22:50893165 G / A
• gnomAD v2: 22-50893165-G-A
• gnomAD v4: 22-50454736-G-A
• COSMIC: COSM6380763 ; COSM6380764
• MyVariant Identifiers: chr22:g.50893165G>A (hg19) ; chr22:g.50454736G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454736G>A , CM000684.2:g.50454736G>A	GRCh38
NC_000022.10:g.50893165G>A , CM000684.1:g.50893165G>A	GRCh37
NC_000022.9:g.49240031G>A	NCBI36
NG_041810.1:g.25336C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4741C>T	ENSP00000252027.8:p.Arg1581Trp
ENST00000418590.4:c.445-30C>T	ENSP00000401538.2:n.445-30C>T
ENST00000470434.2:n.1222C>T
ENST00000684986.1:c.4822C>T	ENSP00000509117.1:p.Arg1608Trp
ENST00000685180.1:n.2488+5798C>T
ENST00000685390.1:n.2781-11C>T
ENST00000685411.1:n.569C>T
ENST00000685592.1:c.1053C>T
ENST00000685809.1:c.4732C>T	ENSP00000508863.1:p.Arg1578Trp
ENST00000686191.1:n.4019C>T
ENST00000686222.1:c.*4241C>T	ENSP00000508737.1:n.*4241C>T
ENST00000686321.1:c.915C>T
ENST00000686427.1:c.*1754C>T	ENSP00000510379.1:n.*1754C>T
ENST00000686758.1:n.2633C>T
ENST00000686801.1:c.4807C>T	ENSP00000509915.1:p.Arg1603Trp
ENST00000686826.1:n.1138C>T
ENST00000687016.1:c.4720C>T	ENSP00000509074.1:p.Arg1574Trp
ENST00000687704.1:c.*2615C>T	ENSP00000510454.1:n.*2615C>T
ENST00000688066.1:c.4819C>T	ENSP00000510782.1:p.Arg1607Trp
ENST00000688124.1:c.*3731-11C>T	ENSP00000510645.1:n.*3731-11C>T
ENST00000688848.1:c.*4163C>T	ENSP00000509419.1:n.*4163C>T
ENST00000688985.1:c.1820C>T	ENSP00000510477.1:n.1820C>T
ENST00000689129.1:c.4744C>T	ENSP00000510414.1:p.Arg1582Trp
ENST00000689177.1:n.6091C>T
ENST00000689849.1:c.915C>T
ENST00000689981.1:c.4819C>T	ENSP00000509035.1:p.Arg1607Trp
ENST00000690369.1:n.4837C>T
ENST00000690590.1:n.1866C>T
ENST00000690990.1:c.4813C>T	ENSP00000510461.1:p.Arg1605Trp
ENST00000691233.1:c.4738C>T	ENSP00000509215.1:p.Arg1580Trp
ENST00000691306.1:c.900C>T
ENST00000691345.1:n.2302+1480C>T
ENST00000691792.1:c.4807C>T	ENSP00000509911.1:p.Arg1603Trp
ENST00000691959.1:n.5538C>T
ENST00000692844.1:n.1903C>T
ENST00000692946.1:c.915C>T
ENST00000693052.1:c.4837C>T	ENSP00000509558.1:p.Arg1613Trp
ENST00000693289.1:n.1978C>T
ENST00000693440.1:c.4816C>T	ENSP00000509462.1:p.Arg1606Trp
ENST00000693499.1:n.5815C>T
ENST00000693591.1:n.3627C>T
ENST00000380817.8:c.4819C>T MANE Select	ENSP00000370196.2:p.Arg1607Trp
ENST00000348911.10:c.4744C>T	ENSP00000252027.7:p.Arg1582Trp
ENST00000380817.7:c.4819C>T	ENSP00000370196.2:p.Arg1607Trp
ENST00000418590.3:c.413-30C>T
ENST00000470434.1:n.960C>T
NM_002972.3:c.4819C>T	NP_002963.2:p.Arg1607Trp
XM_005261931.1:c.4822C>T	XP_005261988.1:p.Arg1608Trp
XM_005261935.1:c.4741C>T	XP_005261992.1:p.Arg1581Trp
XM_011530707.1:c.4921C>T	XP_011529009.1:p.Arg1641Trp
XM_011530708.1:c.4873C>T	XP_011529010.1:p.Arg1625Trp
XM_011530709.1:c.4849C>T	XP_011529011.1:p.Arg1617Trp
XM_011530710.1:c.4846C>T	XP_011529012.1:p.Arg1616Trp
XM_011530711.1:c.4846C>T	XP_011529013.1:p.Arg1616Trp
XR_938344.1:n.4939C>T
NM_001365819.1:c.4744C>T	NP_001352748.1:p.Arg1582Trp
XM_005261935.2:c.4741C>T	XP_005261992.1:p.Arg1581Trp
XM_011530709.2:c.4849C>T	XP_011529011.1:p.Arg1617Trp
XM_011530710.2:c.4846C>T	XP_011529012.1:p.Arg1616Trp
XM_017028905.2:c.4771C>T	XP_016884394.1:p.Arg1591Trp
NM_002972.4:c.4819C>T MANE Select	NP_002963.2:p.Arg1607Trp