Canonical Allele Identifier: CA259631

Gene: FUS

Linked Data

• ClinVar Variation Id: 29707
• ClinVar RCV Id: RCV000022556 ; RCV002247377 ; RCV003764624
• dbSNP Id: rs387906627
• gnomAD v2: 16-31202373-C-T
• MyVariant Identifiers: chr16:g.31202373C>T (hg19) ; chr16:g.31191052C>T (hg38)
• PubMed: PMID:20660363 ; PMID:20668259 ; PMID:20699327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31191052C>T , CM000678.2:g.31191052C>T	GRCh38
NC_000016.9:g.31202373C>T , CM000678.1:g.31202373C>T	GRCh37
NC_000016.8:g.31109874C>T	NCBI36
NG_012889.2:g.15921C>T , LRG_655:g.15921C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.1483C>T MANE Select	ENSP00000254108.8:p.Arg495Ter
ENST00000254108.11:c.1483C>T	ENSP00000254108.7:p.Arg495Ter
ENST00000380244.7:c.1480C>T	ENSP00000369594.3:p.Arg494Ter
ENST00000474990.5:n.777C>T
ENST00000483853.1:n.560C>T
ENST00000487509.6:n.4658C>T
ENST00000566605.5:c.*656C>T	ENSP00000455073.1:n.*656C>T
ENST00000568685.1:c.1486C>T	ENSP00000455282.1:p.Arg496Ter
ENST00000569760.5:n.374C>T
NM_001170634.1:c.1480C>T	NP_001164105.1:p.Arg494Ter
NM_001170937.1:c.1471C>T	NP_001164408.1:p.Arg491Ter
NM_004960.3:c.1483C>T , LRG_655t1:c.1483C>T	NP_004951.1:p.Arg495Ter
NR_028388.2:n.1553C>T
XM_005255233.3:c.868C>T	XP_005255290.1:p.Arg290Ter
XM_011545781.1:c.1477C>T	XP_011544083.1:p.Arg493Ter
XM_011545782.1:c.868C>T	XP_011544084.1:p.Arg290Ter
XM_005255233.5:c.868C>T	XP_005255290.1:p.Arg290Ter
XM_011545782.2:c.868C>T	XP_011544084.1:p.Arg290Ter
XM_024450221.1:c.1474C>T	XP_024305989.1:p.Arg492Ter
NM_004960.4:c.1483C>T MANE Select	NP_004951.1:p.Arg495Ter