Canonical Allele Identifier: CA377886271

Gene: SUFU

Linked Data

• ClinVar Variation Id: 1402570
• ClinVar RCV Id: RCV001925163 ; RCV002343997
• dbSNP Id: rs1489443369
• gnomAD v3: 10-102504205-C-G
• gnomAD v4: 10-102504205-C-G
• MyVariant Identifiers: chr10:g.104263962C>G (hg19) ; chr10:g.102504205C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102504205C>G , CM000672.2:g.102504205C>G	GRCh38
NC_000010.10:g.104263962C>G , CM000672.1:g.104263962C>G	GRCh37
NC_000010.9:g.104253952C>G	NCBI36
NG_011901.1:g.3551G>C
NG_021338.1:g.5244C>G , LRG_521:g.5244C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369902.8:c.53C>G MANE Select	ENSP00000358918.4:p.Pro18Arg
ENST00000369899.6:c.53C>G	ENSP00000358915.2:p.Pro18Arg
ENST00000369902.7:c.53C>G	ENSP00000358918.3:p.Pro18Arg
ENST00000423559.2:c.53C>G	ENSP00000411597.2:p.Pro18Arg
NM_001178133.1:c.53C>G	NP_001171604.1:p.Pro18Arg
NM_016169.3:c.53C>G , LRG_521t1:c.53C>G	NP_057253.2:p.Pro18Arg
XM_011539858.1:c.53C>G	XP_011538160.1:p.Pro18Arg
XM_011539859.1:c.53C>G	XP_011538161.1:p.Pro18Arg
XM_011539860.1:c.53C>G	XP_011538162.1:p.Pro18Arg
XM_011539861.1:c.53C>G	XP_011538163.1:p.Pro18Arg
XM_011539863.1:c.8+1219C>G	XP_011538165.1:n.8+1219C>G
XM_011539864.1:c.53C>G	XP_011538166.1:p.Pro18Arg
XM_011539858.3:c.53C>G	XP_011538160.1:p.Pro18Arg
XM_011539860.3:c.53C>G	XP_011538162.1:p.Pro18Arg
XM_011539861.3:c.53C>G	XP_011538163.1:p.Pro18Arg
XM_011539863.3:c.8+1219C>G	XP_011538165.1:n.8+1219C>G
XM_011539864.3:c.53C>G	XP_011538166.1:p.Pro18Arg
NM_001178133.2:c.53C>G	NP_001171604.1:p.Pro18Arg
NM_016169.4:c.53C>G MANE Select	NP_057253.2:p.Pro18Arg