Canonical Allele Identifier: CA377886118

Gene: SUFU

Linked Data

• ClinVar Variation Id: 1380808
• ClinVar RCV Id: RCV001917319 ; RCV002425170
• dbSNP Id: rs2135597167
• gnomAD v4: 10-102504173-C-A
• MyVariant Identifiers: chr10:g.104263930C>A (hg19) ; chr10:g.102504173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102504173C>A , CM000672.2:g.102504173C>A	GRCh38
NC_000010.10:g.104263930C>A , CM000672.1:g.104263930C>A	GRCh37
NC_000010.9:g.104253920C>A	NCBI36
NG_011901.1:g.3583G>T
NG_021338.1:g.5212C>A , LRG_521:g.5212C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369902.8:c.21C>A MANE Select	ENSP00000358918.4:p.Ser7Arg
ENST00000369899.6:c.21C>A	ENSP00000358915.2:p.Ser7Arg
ENST00000369902.7:c.21C>A	ENSP00000358918.3:p.Ser7Arg
ENST00000423559.2:c.21C>A	ENSP00000411597.2:p.Ser7Arg
NM_001178133.1:c.21C>A	NP_001171604.1:p.Ser7Arg
NM_016169.3:c.21C>A , LRG_521t1:c.21C>A	NP_057253.2:p.Ser7Arg
XM_011539858.1:c.21C>A	XP_011538160.1:p.Ser7Arg
XM_011539859.1:c.21C>A	XP_011538161.1:p.Ser7Arg
XM_011539860.1:c.21C>A	XP_011538162.1:p.Ser7Arg
XM_011539861.1:c.21C>A	XP_011538163.1:p.Ser7Arg
XM_011539863.1:c.8+1187C>A	XP_011538165.1:n.8+1187C>A
XM_011539864.1:c.21C>A	XP_011538166.1:p.Ser7Arg
XM_011539858.3:c.21C>A	XP_011538160.1:p.Ser7Arg
XM_011539860.3:c.21C>A	XP_011538162.1:p.Ser7Arg
XM_011539861.3:c.21C>A	XP_011538163.1:p.Ser7Arg
XM_011539863.3:c.8+1187C>A	XP_011538165.1:n.8+1187C>A
XM_011539864.3:c.21C>A	XP_011538166.1:p.Ser7Arg
NM_001178133.2:c.21C>A	NP_001171604.1:p.Ser7Arg
NM_016169.4:c.21C>A MANE Select	NP_057253.2:p.Ser7Arg