Canonical Allele Identifier: CA640356032

Gene: SBF1

Linked Data

• dbSNP Id: rs1267622198
• gnomAD v2: 22-50893601-C-A
• gnomAD v4: 22-50455172-C-A
• MyVariant Identifiers: chr22:g.50893601C>A (hg19) ; chr22:g.50455172C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455172C>A , CM000684.2:g.50455172C>A	GRCh38
NC_000022.10:g.50893601C>A , CM000684.1:g.50893601C>A	GRCh37
NC_000022.9:g.49240467C>A	NCBI36
NG_041810.1:g.24900G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4477-30G>T	ENSP00000252027.8:n.4477-30G>T
ENST00000418590.4:c.187-30G>T	ENSP00000401538.2:n.187-30G>T
ENST00000470434.2:n.928G>T
ENST00000684986.1:c.4558-30G>T	ENSP00000509117.1:n.4558-30G>T
ENST00000685180.1:n.2488+5362G>T
ENST00000685390.1:n.2523-30G>T
ENST00000685411.1:n.275G>T
ENST00000685592.1:c.789-30G>T
ENST00000685809.1:c.4468-30G>T	ENSP00000508863.1:n.4468-30G>T
ENST00000686029.1:c.633-30G>T
ENST00000686191.1:n.3755-30G>T
ENST00000686222.1:c.*3977-30G>T	ENSP00000508737.1:n.*3977-30G>T
ENST00000686321.1:c.651-30G>T
ENST00000686427.1:c.*1490-30G>T	ENSP00000510379.1:n.*1490-30G>T
ENST00000686758.1:n.2268G>T
ENST00000686801.1:c.4543-30G>T	ENSP00000509915.1:n.4543-30G>T
ENST00000686826.1:n.874-30G>T
ENST00000687016.1:c.4456-30G>T	ENSP00000509074.1:n.4456-30G>T
ENST00000687704.1:c.*2280-30G>T	ENSP00000510454.1:n.*2280-30G>T
ENST00000688066.1:c.4555-30G>T	ENSP00000510782.1:n.4555-30G>T
ENST00000688124.1:c.*3473-30G>T	ENSP00000510645.1:n.*3473-30G>T
ENST00000688848.1:c.*3899-30G>T	ENSP00000509419.1:n.*3899-30G>T
ENST00000688985.1:c.1556-30G>T	ENSP00000510477.1:n.1556-30G>T
ENST00000689129.1:c.4480-30G>T	ENSP00000510414.1:n.4480-30G>T
ENST00000689177.1:n.5827-30G>T
ENST00000689849.1:c.651-30G>T
ENST00000689981.1:c.4555-30G>T	ENSP00000509035.1:n.4555-30G>T
ENST00000690369.1:n.4573-30G>T
ENST00000690590.1:n.1602-30G>T
ENST00000690990.1:c.4549-30G>T	ENSP00000510461.1:n.4549-30G>T
ENST00000691233.1:c.4474-30G>T	ENSP00000509215.1:n.4474-30G>T
ENST00000691306.1:c.653-30G>T
ENST00000691345.1:n.2302+1044G>T
ENST00000691792.1:c.4555-42G>T	ENSP00000509911.1:n.4555-42G>T
ENST00000691959.1:n.5274-30G>T
ENST00000692844.1:n.1639-30G>T
ENST00000692946.1:c.651-30G>T
ENST00000693052.1:c.4573-30G>T	ENSP00000509558.1:n.4573-30G>T
ENST00000693289.1:n.1714-30G>T
ENST00000693440.1:c.4552-30G>T	ENSP00000509462.1:n.4552-30G>T
ENST00000693499.1:n.5480-30G>T
ENST00000693591.1:n.3292-30G>T
ENST00000380817.8:c.4555-30G>T MANE Select	ENSP00000370196.2:n.4555-30G>T
ENST00000348911.10:c.4480-30G>T	ENSP00000252027.7:n.4480-30G>T
ENST00000380817.7:c.4555-30G>T	ENSP00000370196.2:n.4555-30G>T
ENST00000418590.3:c.155-30G>T
ENST00000470434.1:n.696-30G>T
NM_002972.3:c.4555-30G>T	NP_002963.2:n.4555-30G>T
XM_005261931.1:c.4558-30G>T	XP_005261988.1:n.4558-30G>T
XM_005261935.1:c.4477-30G>T	XP_005261992.1:n.4477-30G>T
XM_011530707.1:c.4657-30G>T	XP_011529009.1:n.4657-30G>T
XM_011530708.1:c.4609-30G>T	XP_011529010.1:n.4609-30G>T
XM_011530709.1:c.4585-30G>T	XP_011529011.1:n.4585-30G>T
XM_011530710.1:c.4582-30G>T	XP_011529012.1:n.4582-30G>T
XM_011530711.1:c.4582-30G>T	XP_011529013.1:n.4582-30G>T
XR_938344.1:n.4675-30G>T
NM_001365819.1:c.4480-30G>T	NP_001352748.1:n.4480-30G>T
XM_005261935.2:c.4477-30G>T	XP_005261992.1:n.4477-30G>T
XM_011530709.2:c.4585-30G>T	XP_011529011.1:n.4585-30G>T
XM_011530710.2:c.4582-30G>T	XP_011529012.1:n.4582-30G>T
XM_017028905.2:c.4507-30G>T	XP_016884394.1:n.4507-30G>T
NM_002972.4:c.4555-30G>T MANE Select	NP_002963.2:n.4555-30G>T