Canonical Allele Identifier: CA395677397
Gene: FUS HGNC NCBI

Linked Data

ClinVar Variation Id: 873231
ClinVar RCV Id: RCV001095436
dbSNP Id: rs1567479067

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31191412C>T , CM000678.2:g.31191412C>T GRCh38
NC_000016.9:g.31202733C>T , CM000678.1:g.31202733C>T GRCh37
NC_000016.8:g.31110234C>T NCBI36
NG_012889.2:g.16281C>T , LRG_655:g.16281C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254108.12:c.1555C>T MANE Select ENSP00000254108.8:p.Gln519Ter
ENST00000254108.11:c.1555C>T ENSP00000254108.7:p.Gln519Ter
ENST00000380244.7:c.1552C>T ENSP00000369594.3:p.Gln518Ter
ENST00000483853.1:n.632C>T
ENST00000487509.6:n.4730C>T
ENST00000566605.5:c.*728C>T ENSP00000455073.1:n.*728C>T
ENST00000568685.1:c.1558C>T ENSP00000455282.1:p.Gln520Ter
ENST00000569760.5:n.446C>T
NM_001170634.1:c.1552C>T NP_001164105.1:p.Gln518Ter
NM_001170937.1:c.1543C>T NP_001164408.1:p.Gln515Ter
NM_004960.3:c.1555C>T , LRG_655t1:c.1555C>T NP_004951.1:p.Gln519Ter
NR_028388.2:n.1625C>T
XM_005255233.3:c.940C>T XP_005255290.1:p.Gln314Ter
XM_011545781.1:c.1549C>T XP_011544083.1:p.Gln517Ter
XM_011545782.1:c.940C>T XP_011544084.1:p.Gln314Ter
XM_005255233.5:c.940C>T XP_005255290.1:p.Gln314Ter
XM_011545782.2:c.940C>T XP_011544084.1:p.Gln314Ter
XM_024450221.1:c.1546C>T XP_024305989.1:p.Gln516Ter
NM_004960.4:c.1555C>T MANE Select NP_004951.1:p.Gln519Ter