Canonical Allele Identifier: CA8023709

Gene: FUS

Linked Data

• dbSNP Id: rs751402052
• ExAC: 16:31196293 G / T
• gnomAD v2: 16-31196293-G-T
• gnomAD v3: 16-31184972-G-T
• gnomAD v4: 16-31184972-G-T
• MyVariant Identifiers: chr16:g.31196293G>T (hg19) ; chr16:g.31184972G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31184972G>T , CM000678.2:g.31184972G>T	GRCh38
NC_000016.9:g.31196293G>T , CM000678.1:g.31196293G>T	GRCh37
NC_000016.8:g.31103794G>T	NCBI36
NG_012889.2:g.9841G>T , LRG_655:g.9841G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.557G>T MANE Select	ENSP00000254108.8:p.Ser186Ile
ENST00000254108.11:c.557G>T	ENSP00000254108.7:p.Ser186Ile
ENST00000380244.7:c.554G>T	ENSP00000369594.3:p.Ser185Ile
ENST00000487509.6:n.622G>T
ENST00000566605.5:c.557G>T	ENSP00000455073.1:p.Ser186Ile
ENST00000568685.1:c.557G>T	ENSP00000455282.1:p.Ser186Ile
NM_001170634.1:c.554G>T	NP_001164105.1:p.Ser185Ile
NM_001170937.1:c.545G>T	NP_001164408.1:p.Ser182Ile
NM_004960.3:c.557G>T , LRG_655t1:c.557G>T	NP_004951.1:p.Ser186Ile
NR_028388.2:n.662G>T
XM_005255233.3:c.-24G>T	XP_005255290.1:n.-24G>T
XM_011545781.1:c.551G>T	XP_011544083.1:p.Ser184Ile
XM_011545782.1:c.-24G>T	XP_011544084.1:n.-24G>T
XM_005255233.5:c.-24G>T	XP_005255290.1:n.-24G>T
XM_011545782.2:c.-24G>T	XP_011544084.1:n.-24G>T
XM_024450221.1:c.548G>T	XP_024305989.1:p.Ser183Ile
NM_004960.4:c.557G>T MANE Select	NP_004951.1:p.Ser186Ile