Canonical Allele Identifier: CA377886118
Gene: SUFU HGNC NCBI

Linked Data

ClinVar Variation Id: 1380808
dbSNP Id: rs2135597167

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