Canonical Allele Identifier: CA126283

Gene: FUS

Linked Data

• ClinVar Variation Id: 16221
• ClinVar RCV Id: RCV000017608
• dbSNP Id: rs121909667
• gnomAD v2: 16-31202729-C-G
• gnomAD v4: 16-31191408-C-G
• MyVariant Identifiers: chr16:g.31202729C>G (hg19) ; chr16:g.31191408C>G (hg38)
• PubMed: PMID:19251627

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31191408C>G , CM000678.2:g.31191408C>G	GRCh38
NC_000016.9:g.31202729C>G , CM000678.1:g.31202729C>G	GRCh37
NC_000016.8:g.31110230C>G	NCBI36
NG_012889.2:g.16277C>G , LRG_655:g.16277C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.1551C>G MANE Select	ENSP00000254108.8:p.His517Gln
ENST00000254108.11:c.1551C>G	ENSP00000254108.7:p.His517Gln
ENST00000380244.7:c.1548C>G	ENSP00000369594.3:p.His516Gln
ENST00000483853.1:n.628C>G
ENST00000487509.6:n.4726C>G
ENST00000566605.5:c.*724C>G	ENSP00000455073.1:n.*724C>G
ENST00000568685.1:c.1554C>G	ENSP00000455282.1:p.His518Gln
ENST00000569760.5:n.442C>G
NM_001170634.1:c.1548C>G	NP_001164105.1:p.His516Gln
NM_001170937.1:c.1539C>G	NP_001164408.1:p.His513Gln
NM_004960.3:c.1551C>G , LRG_655t1:c.1551C>G	NP_004951.1:p.His517Gln
NR_028388.2:n.1621C>G
XM_005255233.3:c.936C>G	XP_005255290.1:p.His312Gln
XM_011545781.1:c.1545C>G	XP_011544083.1:p.His515Gln
XM_011545782.1:c.936C>G	XP_011544084.1:p.His312Gln
XM_005255233.5:c.936C>G	XP_005255290.1:p.His312Gln
XM_011545782.2:c.936C>G	XP_011544084.1:p.His312Gln
XM_024450221.1:c.1542C>G	XP_024305989.1:p.His514Gln
NM_004960.4:c.1551C>G MANE Select	NP_004951.1:p.His517Gln