Canonical Allele Identifier: CA5667641

Gene: SUFU

Linked Data

• ClinVar Variation Id: 406392
• ClinVar RCV Id: RCV000476504 ; RCV000763640 ; RCV001293037 ; RCV001016523 ; RCV003105911
• dbSNP Id: rs746322193
• ExAC: 10:104269018 G / C
• gnomAD v2: 10-104269018-G-C
• gnomAD v3: 10-102509261-G-C
• gnomAD v4: 10-102509261-G-C
• MyVariant Identifiers: chr10:g.104269018G>C (hg19) ; chr10:g.102509261G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102509261G>C , CM000672.2:g.102509261G>C	GRCh38
NC_000010.10:g.104269018G>C , CM000672.1:g.104269018G>C	GRCh37
NC_000010.9:g.104259008G>C	NCBI36
NG_021338.1:g.10300G>C , LRG_521:g.10300G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369902.8:c.275G>C MANE Select	ENSP00000358918.4:p.Ser92Thr
ENST00000369899.6:c.275G>C	ENSP00000358915.2:p.Ser92Thr
ENST00000369902.7:c.275G>C	ENSP00000358918.3:p.Ser92Thr
ENST00000423559.2:c.275G>C	ENSP00000411597.2:p.Ser92Thr
NM_001178133.1:c.275G>C	NP_001171604.1:p.Ser92Thr
NM_016169.3:c.275G>C , LRG_521t1:c.275G>C	NP_057253.2:p.Ser92Thr
XM_011539858.1:c.275G>C	XP_011538160.1:p.Ser92Thr
XM_011539859.1:c.275G>C	XP_011538161.1:p.Ser92Thr
XM_011539860.1:c.275G>C	XP_011538162.1:p.Ser92Thr
XM_011539861.1:c.275G>C	XP_011538163.1:p.Ser92Thr
XM_011539862.1:c.197G>C	XP_011538164.1:p.Ser66Thr
XM_011539863.1:c.101G>C	XP_011538165.1:p.Ser34Thr
XM_011539864.1:c.275G>C	XP_011538166.1:p.Ser92Thr
XM_011539858.3:c.275G>C	XP_011538160.1:p.Ser92Thr
XM_011539860.3:c.275G>C	XP_011538162.1:p.Ser92Thr
XM_011539861.3:c.275G>C	XP_011538163.1:p.Ser92Thr
XM_011539863.3:c.101G>C	XP_011538165.1:p.Ser34Thr
XM_011539864.3:c.275G>C	XP_011538166.1:p.Ser92Thr
XM_017016323.1:c.197G>C	XP_016871812.1:p.Ser66Thr
NM_001178133.2:c.275G>C	NP_001171604.1:p.Ser92Thr
NM_016169.4:c.275G>C MANE Select	NP_057253.2:p.Ser92Thr