Canonical Allele Identifier: CA8023451
Gene: FUS HGNC NCBI
COSMIC:
COSM1377614 (not active)
COSM3754865 (not active)
MyVariant.info:
GRCh38 chr16:g.31182621C>A
GRCh37 chr16:g.31193942C>A
gnomAD v2:
16:31193942 C / A
gnomAD v3:
16:31182621 C / A
gnomAD v4:
chr16-31182621-C-A
Joint Max Group AF 0.50449706 (SAS)
Genomes Max Group AF 0.5074087 (SAS)
Exomes Max Group AF 0.50349457 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31182621C>A , CM000678.2:g.31182621C>A GRCh38
NC_000016.9:g.31193942C>A , CM000678.1:g.31193942C>A GRCh37
NC_000016.8:g.31101443C>A NCBI36
NG_012889.2:g.7490C>A , LRG_655:g.7490C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254108.12:c.147C>A MANE Select ENSP00000254108.8:p.Gly49=
ENST00000254108.11:c.147C>A ENSP00000254108.7:p.Gly49=
ENST00000380244.7:c.147C>A ENSP00000369594.3:p.Gly49=
ENST00000487045.6:n.223C>A
ENST00000487509.6:n.212C>A
ENST00000566605.5:c.147C>A ENSP00000455073.1:p.Gly49=
ENST00000568685.1:c.147C>A ENSP00000455282.1:p.Gly49=
NM_001170634.1:c.147C>A NP_001164105.1:p.Gly49=
NM_001170937.1:c.147C>A NP_001164408.1:p.Gly49=
NM_004960.3:c.147C>A , LRG_655t1:c.147C>A NP_004951.1:p.Gly49=
NR_028388.2:n.252C>A
XM_005255233.3:c.-431C>A XP_005255290.1:n.-431C>A
XM_011545781.1:c.147C>A XP_011544083.1:p.Gly49=
XM_005255233.5:c.-431C>A XP_005255290.1:n.-431C>A
XM_024450221.1:c.147C>A XP_024305989.1:p.Gly49=
NM_004960.4:c.147C>A MANE Select NP_004951.1:p.Gly49=
Search 100 bp 5'
Search 100 bp 3'