Canonical Allele Identifier: CA412193340

Gene: SBF1

Linked Data

• dbSNP Id: rs2067186349
• gnomAD v3: 22-50454890-A-G
• gnomAD v4: 22-50454890-A-G
• MyVariant Identifiers: chr22:g.50893319A>G (hg19) ; chr22:g.50454890A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454890A>G , CM000684.2:g.50454890A>G	GRCh38
NC_000022.10:g.50893319A>G , CM000684.1:g.50893319A>G	GRCh37
NC_000022.9:g.49240185A>G	NCBI36
NG_041810.1:g.25182T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4658T>C	ENSP00000252027.8:p.Val1553Ala
ENST00000418590.4:c.368T>C	ENSP00000401538.2:p.Val123Ala
ENST00000470434.2:n.1139T>C
ENST00000684986.1:c.4739T>C	ENSP00000509117.1:p.Val1580Ala
ENST00000685180.1:n.2488+5644T>C
ENST00000685390.1:n.2704T>C
ENST00000685411.1:n.486T>C
ENST00000685592.1:c.970T>C
ENST00000685809.1:c.4649T>C	ENSP00000508863.1:p.Val1550Ala
ENST00000686029.1:c.814T>C
ENST00000686191.1:n.3936T>C
ENST00000686222.1:c.*4158T>C	ENSP00000508737.1:n.*4158T>C
ENST00000686321.1:c.832T>C
ENST00000686427.1:c.*1671T>C	ENSP00000510379.1:n.*1671T>C
ENST00000686758.1:n.2550T>C
ENST00000686801.1:c.4724T>C	ENSP00000509915.1:p.Val1575Ala
ENST00000686826.1:n.1055T>C
ENST00000687016.1:c.4637T>C	ENSP00000509074.1:p.Val1546Ala
ENST00000687704.1:c.*2461T>C	ENSP00000510454.1:n.*2461T>C
ENST00000688066.1:c.4736T>C	ENSP00000510782.1:p.Val1579Ala
ENST00000688124.1:c.*3654T>C	ENSP00000510645.1:n.*3654T>C
ENST00000688848.1:c.*4080T>C	ENSP00000509419.1:n.*4080T>C
ENST00000688985.1:c.1737T>C	ENSP00000510477.1:n.1737T>C
ENST00000689129.1:c.4661T>C	ENSP00000510414.1:p.Val1554Ala
ENST00000689177.1:n.6008T>C
ENST00000689849.1:c.832T>C
ENST00000689981.1:c.4736T>C	ENSP00000509035.1:p.Val1579Ala
ENST00000690369.1:n.4754T>C
ENST00000690590.1:n.1783T>C
ENST00000690990.1:c.4730T>C	ENSP00000510461.1:p.Val1577Ala
ENST00000691233.1:c.4655T>C	ENSP00000509215.1:p.Val1552Ala
ENST00000691306.1:c.817T>C
ENST00000691345.1:n.2302+1326T>C
ENST00000691792.1:c.4724T>C	ENSP00000509911.1:p.Val1575Ala
ENST00000691959.1:n.5455T>C
ENST00000692844.1:n.1820T>C
ENST00000692946.1:c.832T>C
ENST00000693052.1:c.4754T>C	ENSP00000509558.1:p.Val1585Ala
ENST00000693289.1:n.1895T>C
ENST00000693440.1:c.4733T>C	ENSP00000509462.1:p.Val1578Ala
ENST00000693499.1:n.5732T>C
ENST00000693591.1:n.3544T>C
ENST00000380817.8:c.4736T>C MANE Select	ENSP00000370196.2:p.Val1579Ala
ENST00000348911.10:c.4661T>C	ENSP00000252027.7:p.Val1554Ala
ENST00000380817.7:c.4736T>C	ENSP00000370196.2:p.Val1579Ala
ENST00000418590.3:c.336T>C
ENST00000470434.1:n.877T>C
NM_002972.3:c.4736T>C	NP_002963.2:p.Val1579Ala
XM_005261931.1:c.4739T>C	XP_005261988.1:p.Val1580Ala
XM_005261935.1:c.4658T>C	XP_005261992.1:p.Val1553Ala
XM_011530707.1:c.4838T>C	XP_011529009.1:p.Val1613Ala
XM_011530708.1:c.4790T>C	XP_011529010.1:p.Val1597Ala
XM_011530709.1:c.4766T>C	XP_011529011.1:p.Val1589Ala
XM_011530710.1:c.4763T>C	XP_011529012.1:p.Val1588Ala
XM_011530711.1:c.4763T>C	XP_011529013.1:p.Val1588Ala
XR_938344.1:n.4856T>C
NM_001365819.1:c.4661T>C	NP_001352748.1:p.Val1554Ala
XM_005261935.2:c.4658T>C	XP_005261992.1:p.Val1553Ala
XM_011530709.2:c.4766T>C	XP_011529011.1:p.Val1589Ala
XM_011530710.2:c.4763T>C	XP_011529012.1:p.Val1588Ala
XM_017028905.2:c.4688T>C	XP_016884394.1:p.Val1563Ala
NM_002972.4:c.4736T>C MANE Select	NP_002963.2:p.Val1579Ala