Canonical Allele Identifier: CA257441

Gene: FUS

Linked Data

• ClinVar Variation Id: 16224
• ClinVar RCV Id: RCV000017611 ; RCV001701569 ; RCV001851894
• dbSNP Id: rs121909668
• gnomAD v2: 16-31202739-C-T
• gnomAD v3: 16-31191418-C-T
• gnomAD v4: 16-31191418-C-T
• COSMIC: COSM5906020 ; COSM5906021
• MyVariant Identifiers: chr16:g.31202739C>T (hg19) ; chr16:g.31191418C>T (hg38)
• PubMed: PMID:12840784 ; PMID:19251627 ; PMID:19251628 ; PMID:19861302 ; PMID:20577002 ; PMID:20668259

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31191418C>T , CM000678.2:g.31191418C>T	GRCh38
NC_000016.9:g.31202739C>T , CM000678.1:g.31202739C>T	GRCh37
NC_000016.8:g.31110240C>T	NCBI36
NG_012889.2:g.16287C>T , LRG_655:g.16287C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000254108.12:c.1561C>T MANE Select	ENSP00000254108.8:p.Arg521Cys
ENST00000254108.11:c.1561C>T	ENSP00000254108.7:p.Arg521Cys
ENST00000380244.7:c.1558C>T	ENSP00000369594.3:p.Arg520Cys
ENST00000483853.1:n.638C>T
ENST00000487509.6:n.4736C>T
ENST00000566605.5:c.*734C>T	ENSP00000455073.1:n.*734C>T
ENST00000568685.1:c.1564C>T	ENSP00000455282.1:p.Arg522Cys
ENST00000569760.5:n.452C>T
NM_001170634.1:c.1558C>T	NP_001164105.1:p.Arg520Cys
NM_001170937.1:c.1549C>T	NP_001164408.1:p.Arg517Cys
NM_004960.3:c.1561C>T , LRG_655t1:c.1561C>T	NP_004951.1:p.Arg521Cys
NR_028388.2:n.1631C>T
XM_005255233.3:c.946C>T	XP_005255290.1:p.Arg316Cys
XM_011545781.1:c.1555C>T	XP_011544083.1:p.Arg519Cys
XM_011545782.1:c.946C>T	XP_011544084.1:p.Arg316Cys
XM_005255233.5:c.946C>T	XP_005255290.1:p.Arg316Cys
XM_011545782.2:c.946C>T	XP_011544084.1:p.Arg316Cys
XM_024450221.1:c.1552C>T	XP_024305989.1:p.Arg518Cys
NM_004960.4:c.1561C>T MANE Select	NP_004951.1:p.Arg521Cys