Canonical Allele Identifier: CA395677337

Gene: FUS

Linked Data

• ClinVar Variation Id: 427191
• ClinVar RCV Id: RCV000489101 ; RCV002526045
• dbSNP Id: rs1085308015
• MyVariant Identifiers: chr16:g.31202728A>G (hg19) ; chr16:g.31191407A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31191407A>G , CM000678.2:g.31191407A>G	GRCh38
NC_000016.9:g.31202728A>G , CM000678.1:g.31202728A>G	GRCh37
NC_000016.8:g.31110229A>G	NCBI36
NG_012889.2:g.16276A>G , LRG_655:g.16276A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.1550A>G MANE Select	ENSP00000254108.8:p.His517Arg
ENST00000254108.11:c.1550A>G	ENSP00000254108.7:p.His517Arg
ENST00000380244.7:c.1547A>G	ENSP00000369594.3:p.His516Arg
ENST00000483853.1:n.627A>G
ENST00000487509.6:n.4725A>G
ENST00000566605.5:c.*723A>G	ENSP00000455073.1:n.*723A>G
ENST00000568685.1:c.1553A>G	ENSP00000455282.1:p.His518Arg
ENST00000569760.5:n.441A>G
NM_001170634.1:c.1547A>G	NP_001164105.1:p.His516Arg
NM_001170937.1:c.1538A>G	NP_001164408.1:p.His513Arg
NM_004960.3:c.1550A>G , LRG_655t1:c.1550A>G	NP_004951.1:p.His517Arg
NR_028388.2:n.1620A>G
XM_005255233.3:c.935A>G	XP_005255290.1:p.His312Arg
XM_011545781.1:c.1544A>G	XP_011544083.1:p.His515Arg
XM_011545782.1:c.935A>G	XP_011544084.1:p.His312Arg
XM_005255233.5:c.935A>G	XP_005255290.1:p.His312Arg
XM_011545782.2:c.935A>G	XP_011544084.1:p.His312Arg
XM_024450221.1:c.1541A>G	XP_024305989.1:p.His514Arg
NM_004960.4:c.1550A>G MANE Select	NP_004951.1:p.His517Arg