Canonical Allele Identifier: CA377886376

Gene: SUFU

Linked Data

• ClinVar Variation Id: 943348
• ClinVar RCV Id: RCV001213520 ; RCV002418731
• dbSNP Id: rs2062291537
• gnomAD v4: 10-102504231-G-A
• MyVariant Identifiers: chr10:g.104263988G>A (hg19) ; chr10:g.102504231G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102504231G>A , CM000672.2:g.102504231G>A	GRCh38
NC_000010.10:g.104263988G>A , CM000672.1:g.104263988G>A	GRCh37
NC_000010.9:g.104253978G>A	NCBI36
NG_011901.1:g.3525C>T
NG_021338.1:g.5270G>A , LRG_521:g.5270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369902.8:c.79G>A MANE Select	ENSP00000358918.4:p.Ala27Thr
ENST00000369899.6:c.79G>A	ENSP00000358915.2:p.Ala27Thr
ENST00000369902.7:c.79G>A	ENSP00000358918.3:p.Ala27Thr
ENST00000423559.2:c.79G>A	ENSP00000411597.2:p.Ala27Thr
NM_001178133.1:c.79G>A	NP_001171604.1:p.Ala27Thr
NM_016169.3:c.79G>A , LRG_521t1:c.79G>A	NP_057253.2:p.Ala27Thr
XM_011539858.1:c.79G>A	XP_011538160.1:p.Ala27Thr
XM_011539859.1:c.79G>A	XP_011538161.1:p.Ala27Thr
XM_011539860.1:c.79G>A	XP_011538162.1:p.Ala27Thr
XM_011539861.1:c.79G>A	XP_011538163.1:p.Ala27Thr
XM_011539863.1:c.8+1245G>A	XP_011538165.1:n.8+1245G>A
XM_011539864.1:c.79G>A	XP_011538166.1:p.Ala27Thr
XM_011539858.3:c.79G>A	XP_011538160.1:p.Ala27Thr
XM_011539860.3:c.79G>A	XP_011538162.1:p.Ala27Thr
XM_011539861.3:c.79G>A	XP_011538163.1:p.Ala27Thr
XM_011539863.3:c.8+1245G>A	XP_011538165.1:n.8+1245G>A
XM_011539864.3:c.79G>A	XP_011538166.1:p.Ala27Thr
NM_001178133.2:c.79G>A	NP_001171604.1:p.Ala27Thr
NM_016169.4:c.79G>A MANE Select	NP_057253.2:p.Ala27Thr