Canonical Allele Identifier: CA8023413

Gene: FUS

Linked Data

• ClinVar Variation Id: 447356
• ClinVar RCV Id: RCV000517990
• dbSNP Id: rs750230722
• ExAC: 16:31193736 A / G
• gnomAD v2: 16-31193736-A-G
• gnomAD v3: 16-31182415-A-G
• gnomAD v4: 16-31182415-A-G
• MyVariant Identifiers: chr16:g.31193736A>G (hg19) ; chr16:g.31182415A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31182415A>G , CM000678.2:g.31182415A>G	GRCh38
NC_000016.9:g.31193736A>G , CM000678.1:g.31193736A>G	GRCh37
NC_000016.8:g.31101237A>G	NCBI36
NG_012889.2:g.7284A>G , LRG_655:g.7284A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.31A>G MANE Select	ENSP00000254108.8:p.Thr11Ala
ENST00000254108.11:c.31A>G	ENSP00000254108.7:p.Thr11Ala
ENST00000380244.7:c.31A>G	ENSP00000369594.3:p.Thr11Ala
ENST00000487045.6:n.107A>G
ENST00000487509.6:n.96A>G
ENST00000566605.5:c.31A>G	ENSP00000455073.1:p.Thr11Ala
ENST00000568685.1:c.31A>G	ENSP00000455282.1:p.Thr11Ala
NM_001170634.1:c.31A>G	NP_001164105.1:p.Thr11Ala
NM_001170937.1:c.31A>G	NP_001164408.1:p.Thr11Ala
NM_004960.3:c.31A>G , LRG_655t1:c.31A>G	NP_004951.1:p.Thr11Ala
NR_028388.2:n.136A>G
XM_005255233.3:c.-547A>G	XP_005255290.1:n.-547A>G
XM_011545781.1:c.31A>G	XP_011544083.1:p.Thr11Ala
XM_005255233.5:c.-547A>G	XP_005255290.1:n.-547A>G
XM_024450221.1:c.31A>G	XP_024305989.1:p.Thr11Ala
NM_004960.4:c.31A>G MANE Select	NP_004951.1:p.Thr11Ala