Canonical Allele Identifier: CA8023311

Gene: FUS

Linked Data

• ClinVar Variation Id: 318979
• ClinVar RCV Id: RCV000307180 ; RCV001642991
• dbSNP Id: rs929867
• ExAC: 16:31191482 A / G
• gnomAD v2: 16-31191482-A-G
• gnomAD v3: 16-31180161-A-G
• gnomAD v4: 16-31180161-A-G
• MyVariant Identifiers: chr16:g.31191482A>G (hg19) ; chr16:g.31180161A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31180161A>G , CM000678.2:g.31180161A>G	GRCh38
NC_000016.9:g.31191482A>G , CM000678.1:g.31191482A>G	GRCh37
NC_000016.8:g.31098983A>G	NCBI36
NG_012889.2:g.5030A>G , LRG_655:g.5030A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000254108.12:c.-54A>G MANE Select	ENSP00000254108.8:n.-54A>G
ENST00000254108.11:c.-54A>G	ENSP00000254108.7:n.-54A>G
ENST00000380244.7:c.-54A>G	ENSP00000369594.3:n.-54A>G
ENST00000487045.6:n.23A>G
ENST00000487509.6:n.12A>G
ENST00000566605.5:c.-54A>G	ENSP00000455073.1:n.-54A>G
ENST00000568685.1:c.-54A>G	ENSP00000455282.1:n.-54A>G
NM_001170634.1:c.-54A>G	NP_001164105.1:n.-54A>G
NM_001170937.1:c.-54A>G	NP_001164408.1:n.-54A>G
NM_004960.3:c.-54A>G , LRG_655t1:c.-54A>G	NP_004951.1:n.-54A>G
NR_028388.2:n.52A>G
XM_005255233.3:c.-631A>G	XP_005255290.1:n.-631A>G
XM_011545781.1:c.-54A>G	XP_011544083.1:n.-54A>G
XM_005255233.5:c.-631A>G	XP_005255290.1:n.-631A>G
XM_024450221.1:c.-54A>G	XP_024305989.1:n.-54A>G
NM_004960.4:c.-54A>G MANE Select	NP_004951.1:n.-54A>G