Canonical Allele Identifier: CA8024132

Gene: FUS

Linked Data

• ClinVar Variation Id: 493179
• ClinVar RCV Id: RCV000585045 ; RCV001087410 ; RCV003403375
• dbSNP Id: rs376510148
• ExAC: 16:31202807 G / A
• gnomAD v2: 16-31202807-G-A
• gnomAD v3: 16-31191486-G-A
• gnomAD v4: 16-31191486-G-A
• MyVariant Identifiers: chr16:g.31202807G>A (hg19) ; chr16:g.31191486G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31191486G>A , CM000678.2:g.31191486G>A	GRCh38
NC_000016.9:g.31202807G>A , CM000678.1:g.31202807G>A	GRCh37
NC_000016.8:g.31110308G>A	NCBI36
NG_012889.2:g.16355G>A , LRG_655:g.16355G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.*48G>A MANE Select	ENSP00000254108.8:n.*48G>A
ENST00000254108.11:c.*48G>A	ENSP00000254108.7:n.*48G>A
ENST00000380244.7:c.*48G>A	ENSP00000369594.3:n.*48G>A
ENST00000483853.1:n.706G>A
ENST00000487509.6:n.4804G>A
ENST00000566605.5:c.*802G>A	ENSP00000455073.1:n.*802G>A
ENST00000568685.1:c.*48G>A	ENSP00000455282.1:n.*48G>A
ENST00000569760.5:n.520G>A
NM_001170634.1:c.*48G>A	NP_001164105.1:n.*48G>A
NM_001170937.1:c.*48G>A	NP_001164408.1:n.*48G>A
NM_004960.3:c.*48G>A , LRG_655t1:c.*48G>A	NP_004951.1:n.*48G>A
NR_028388.2:n.1699G>A
XM_005255233.3:c.*48G>A	XP_005255290.1:n.*48G>A
XM_011545781.1:c.*48G>A	XP_011544083.1:n.*48G>A
XM_011545782.1:c.*48G>A	XP_011544084.1:n.*48G>A
XM_005255233.5:c.*48G>A	XP_005255290.1:n.*48G>A
XM_011545782.2:c.*48G>A	XP_011544084.1:n.*48G>A
XM_024450221.1:c.*48G>A	XP_024305989.1:n.*48G>A
NM_004960.4:c.*48G>A MANE Select	NP_004951.1:n.*48G>A