Canonical Allele Identifier: CA8023533

Gene: FUS

Linked Data

• ClinVar Variation Id: 540282
• ClinVar RCV Id: RCV000650271 ; RCV001120535 ; RCV002422395 ; RCV003424240 ; RCV003928109
• dbSNP Id: rs144853447
• ExAC: 16:31195186 T / C
• gnomAD v2: 16-31195186-T-C
• gnomAD v3: 16-31183865-T-C
• gnomAD v4: 16-31183865-T-C
• MyVariant Identifiers: chr16:g.31195186T>C (hg19) ; chr16:g.31183865T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31183865T>C , CM000678.2:g.31183865T>C	GRCh38
NC_000016.9:g.31195186T>C , CM000678.1:g.31195186T>C	GRCh37
NC_000016.8:g.31102687T>C	NCBI36
NG_012889.2:g.8734T>C , LRG_655:g.8734T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.198T>C MANE Select	ENSP00000254108.8:p.Tyr66=
ENST00000254108.11:c.198T>C	ENSP00000254108.7:p.Tyr66=
ENST00000380244.7:c.195T>C	ENSP00000369594.3:p.Tyr65=
ENST00000487509.6:n.263T>C
ENST00000487974.1:n.316T>C
ENST00000566605.5:c.198T>C	ENSP00000455073.1:p.Tyr66=
ENST00000568685.1:c.198T>C	ENSP00000455282.1:p.Tyr66=
NM_001170634.1:c.195T>C	NP_001164105.1:p.Tyr65=
NM_001170937.1:c.198T>C	NP_001164408.1:p.Tyr66=
NM_004960.3:c.198T>C , LRG_655t1:c.198T>C	NP_004951.1:p.Tyr66=
NR_028388.2:n.303T>C
XM_005255233.3:c.-383T>C	XP_005255290.1:n.-383T>C
XM_011545781.1:c.198T>C	XP_011544083.1:p.Tyr66=
XM_005255233.5:c.-383T>C	XP_005255290.1:n.-383T>C
XM_024450221.1:c.195T>C	XP_024305989.1:p.Tyr65=
NM_004960.4:c.198T>C MANE Select	NP_004951.1:p.Tyr66=