Canonical Allele Identifier: CA412193042

Gene: SBF1

Linked Data

• dbSNP Id: rs1213487805
• gnomAD v4: 22-50454847-G-C
• MyVariant Identifiers: chr22:g.50893276G>C (hg19) ; chr22:g.50454847G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454847G>C , CM000684.2:g.50454847G>C	GRCh38
NC_000022.10:g.50893276G>C , CM000684.1:g.50893276G>C	GRCh37
NC_000022.9:g.49240142G>C	NCBI36
NG_041810.1:g.25225C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4701C>G	ENSP00000252027.8:p.Phe1567Leu
ENST00000418590.4:c.411C>G	ENSP00000401538.2:p.Phe137Leu
ENST00000470434.2:n.1182C>G
ENST00000684986.1:c.4782C>G	ENSP00000509117.1:p.Phe1594Leu
ENST00000685180.1:n.2488+5687C>G
ENST00000685390.1:n.2747C>G
ENST00000685411.1:n.529C>G
ENST00000685592.1:c.1013C>G
ENST00000685809.1:c.4692C>G	ENSP00000508863.1:p.Phe1564Leu
ENST00000686029.1:c.857C>G
ENST00000686191.1:n.3979C>G
ENST00000686222.1:c.*4201C>G	ENSP00000508737.1:n.*4201C>G
ENST00000686321.1:c.875C>G
ENST00000686427.1:c.*1714C>G	ENSP00000510379.1:n.*1714C>G
ENST00000686758.1:n.2593C>G
ENST00000686801.1:c.4767C>G	ENSP00000509915.1:p.Phe1589Leu
ENST00000686826.1:n.1098C>G
ENST00000687016.1:c.4680C>G	ENSP00000509074.1:p.Phe1560Leu
ENST00000687704.1:c.*2504C>G	ENSP00000510454.1:n.*2504C>G
ENST00000688066.1:c.4779C>G	ENSP00000510782.1:p.Phe1593Leu
ENST00000688124.1:c.*3697C>G	ENSP00000510645.1:n.*3697C>G
ENST00000688848.1:c.*4123C>G	ENSP00000509419.1:n.*4123C>G
ENST00000688985.1:c.1780C>G	ENSP00000510477.1:n.1780C>G
ENST00000689129.1:c.4704C>G	ENSP00000510414.1:p.Phe1568Leu
ENST00000689177.1:n.6051C>G
ENST00000689849.1:c.875C>G
ENST00000689981.1:c.4779C>G	ENSP00000509035.1:p.Phe1593Leu
ENST00000690369.1:n.4797C>G
ENST00000690590.1:n.1826C>G
ENST00000690990.1:c.4773C>G	ENSP00000510461.1:p.Phe1591Leu
ENST00000691233.1:c.4698C>G	ENSP00000509215.1:p.Phe1566Leu
ENST00000691306.1:c.860C>G
ENST00000691345.1:n.2302+1369C>G
ENST00000691792.1:c.4767C>G	ENSP00000509911.1:p.Phe1589Leu
ENST00000691959.1:n.5498C>G
ENST00000692844.1:n.1863C>G
ENST00000692946.1:c.875C>G
ENST00000693052.1:c.4797C>G	ENSP00000509558.1:p.Phe1599Leu
ENST00000693289.1:n.1938C>G
ENST00000693440.1:c.4776C>G	ENSP00000509462.1:p.Phe1592Leu
ENST00000693499.1:n.5775C>G
ENST00000693591.1:n.3587C>G
ENST00000380817.8:c.4779C>G MANE Select	ENSP00000370196.2:p.Phe1593Leu
ENST00000348911.10:c.4704C>G	ENSP00000252027.7:p.Phe1568Leu
ENST00000380817.7:c.4779C>G	ENSP00000370196.2:p.Phe1593Leu
ENST00000418590.3:c.379C>G
ENST00000470434.1:n.920C>G
NM_002972.3:c.4779C>G	NP_002963.2:p.Phe1593Leu
XM_005261931.1:c.4782C>G	XP_005261988.1:p.Phe1594Leu
XM_005261935.1:c.4701C>G	XP_005261992.1:p.Phe1567Leu
XM_011530707.1:c.4881C>G	XP_011529009.1:p.Phe1627Leu
XM_011530708.1:c.4833C>G	XP_011529010.1:p.Phe1611Leu
XM_011530709.1:c.4809C>G	XP_011529011.1:p.Phe1603Leu
XM_011530710.1:c.4806C>G	XP_011529012.1:p.Phe1602Leu
XM_011530711.1:c.4806C>G	XP_011529013.1:p.Phe1602Leu
XR_938344.1:n.4899C>G
NM_001365819.1:c.4704C>G	NP_001352748.1:p.Phe1568Leu
XM_005261935.2:c.4701C>G	XP_005261992.1:p.Phe1567Leu
XM_011530709.2:c.4809C>G	XP_011529011.1:p.Phe1603Leu
XM_011530710.2:c.4806C>G	XP_011529012.1:p.Phe1602Leu
XM_017028905.2:c.4731C>G	XP_016884394.1:p.Phe1577Leu
NM_002972.4:c.4779C>G MANE Select	NP_002963.2:p.Phe1593Leu