Canonical Allele Identifier: CA358114

Gene: SBF2

Linked Data

• ClinVar Variation Id: 225095
• ClinVar RCV Id: RCV000210630 ; RCV003743643
• dbSNP Id: rs869312963
• gnomAD v4: 11-9816961-A-G
• MyVariant Identifiers: chr11:g.9838508A>G (hg19) ; chr11:g.9816961A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9816961A>G , CM000673.2:g.9816961A>G	GRCh38
NC_000011.9:g.9838508A>G , CM000673.1:g.9838508A>G	GRCh37
NC_000011.8:g.9795084A>G	NCBI36
NG_008074.1:g.482247T>C , LRG_267:g.482247T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524961.6:n.341T>C
ENST00000530741.2:c.2420T>C	ENSP00000432643.2:p.Val807Ala
ENST00000532095.2:n.393T>C
ENST00000675281.2:c.3932T>C	ENSP00000502491.1:p.Val1311Ala
ENST00000676324.2:c.*165T>C	ENSP00000502578.1:n.*165T>C
ENST00000676387.2:c.3914T>C	ENSP00000502779.1:p.Val1305Ala
ENST00000688344.1:c.3464T>C	ENSP00000509987.1:p.Val1155Ala
ENST00000689128.1:c.3953T>C	ENSP00000509587.1:p.Val1318Ala
ENST00000689258.1:c.3794T>C	ENSP00000510475.1:p.Val1265Ala
ENST00000689342.1:c.64T>C
ENST00000689356.1:n.1028T>C
ENST00000689597.1:c.2561T>C	ENSP00000510781.1:p.Val854Ala
ENST00000689940.1:c.3851T>C	ENSP00000508452.1:p.Val1284Ala
ENST00000690944.1:c.64T>C
ENST00000691616.1:n.341T>C
ENST00000692716.1:c.3728T>C	ENSP00000509545.1:p.Val1243Ala
ENST00000693541.1:n.776T>C
ENST00000256190.13:c.3857T>C MANE Select	ENSP00000256190.8:p.Val1286Ala
ENST00000675281.1:c.3932T>C	ENSP00000502491.1:p.Val1311Ala
ENST00000676324.1:c.*165T>C	ENSP00000502578.1:n.*165T>C
ENST00000676387.1:c.3914T>C	ENSP00000502779.1:p.Val1305Ala
ENST00000256190.12:c.3857T>C	ENSP00000256190.8:p.Val1286Ala
ENST00000524961.5:n.341T>C
ENST00000530741.1:c.604T>C
ENST00000533584.1:n.377T>C
ENST00000617179.4:c.3716T>C	ENSP00000482806.1:p.Val1239Ala
NM_030962.3:c.3857T>C , LRG_267t1:c.3857T>C	NP_112224.1:p.Val1286Ala
XM_005253154.3:c.3953T>C	XP_005253211.1:p.Val1318Ala
XM_005253155.3:c.3824T>C	XP_005253212.1:p.Val1275Ala
XM_011520394.1:c.3839T>C	XP_011518696.1:p.Val1280Ala
XM_005253154.5:c.3953T>C	XP_005253211.1:p.Val1318Ala
XM_005253155.5:c.3824T>C	XP_005253212.1:p.Val1275Ala
XM_011520394.3:c.3839T>C	XP_011518696.1:p.Val1280Ala
XM_017018372.2:c.3815T>C	XP_016873861.1:p.Val1272Ala
XM_017018373.2:c.3815T>C	XP_016873862.1:p.Val1272Ala
XM_017018374.2:c.3728T>C	XP_016873863.1:p.Val1243Ala
XM_017018375.2:c.3716T>C	XP_016873864.1:p.Val1239Ala
XR_001747994.2:n.4091T>C
NM_001386339.1:c.3953T>C	NP_001373268.1:p.Val1318Ala
NM_001386342.1:c.3728T>C	NP_001373271.1:p.Val1243Ala
NM_030962.4:c.3857T>C MANE Select	NP_112224.1:p.Val1286Ala