Canonical Allele Identifier: CA377886265

Gene: SUFU

Linked Data

• ClinVar Variation Id: 1715204
• ClinVar RCV Id: RCV002304498
• gnomAD v4: 10-102504204-C-A
• MyVariant Identifiers: chr10:g.104263961C>A (hg19) ; chr10:g.102504204C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102504204C>A , CM000672.2:g.102504204C>A	GRCh38
NC_000010.10:g.104263961C>A , CM000672.1:g.104263961C>A	GRCh37
NC_000010.9:g.104253951C>A	NCBI36
NG_011901.1:g.3552G>T
NG_021338.1:g.5243C>A , LRG_521:g.5243C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369902.8:c.52C>A MANE Select	ENSP00000358918.4:p.Pro18Thr
ENST00000369899.6:c.52C>A	ENSP00000358915.2:p.Pro18Thr
ENST00000369902.7:c.52C>A	ENSP00000358918.3:p.Pro18Thr
ENST00000423559.2:c.52C>A	ENSP00000411597.2:p.Pro18Thr
NM_001178133.1:c.52C>A	NP_001171604.1:p.Pro18Thr
NM_016169.3:c.52C>A , LRG_521t1:c.52C>A	NP_057253.2:p.Pro18Thr
XM_011539858.1:c.52C>A	XP_011538160.1:p.Pro18Thr
XM_011539859.1:c.52C>A	XP_011538161.1:p.Pro18Thr
XM_011539860.1:c.52C>A	XP_011538162.1:p.Pro18Thr
XM_011539861.1:c.52C>A	XP_011538163.1:p.Pro18Thr
XM_011539863.1:c.8+1218C>A	XP_011538165.1:n.8+1218C>A
XM_011539864.1:c.52C>A	XP_011538166.1:p.Pro18Thr
XM_011539858.3:c.52C>A	XP_011538160.1:p.Pro18Thr
XM_011539860.3:c.52C>A	XP_011538162.1:p.Pro18Thr
XM_011539861.3:c.52C>A	XP_011538163.1:p.Pro18Thr
XM_011539863.3:c.8+1218C>A	XP_011538165.1:n.8+1218C>A
XM_011539864.3:c.52C>A	XP_011538166.1:p.Pro18Thr
NM_001178133.2:c.52C>A	NP_001171604.1:p.Pro18Thr
NM_016169.4:c.52C>A MANE Select	NP_057253.2:p.Pro18Thr