Canonical Allele Identifier: CA494713730

Gene: FUS

Linked Data

• dbSNP Id: rs1302195976
• gnomAD v2: 16-31200541-T-C
• gnomAD v4: 16-31189220-T-C
• MyVariant Identifiers: chr16:g.31200541T>C (hg19) ; chr16:g.31189220T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31189220T>C , CM000678.2:g.31189220T>C	GRCh38
NC_000016.9:g.31200541T>C , CM000678.1:g.31200541T>C	GRCh37
NC_000016.8:g.31108042T>C	NCBI36
NG_012889.2:g.14089T>C , LRG_655:g.14089T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.930T>C MANE Select	ENSP00000254108.8:p.Ile310=
ENST00000254108.11:c.930T>C	ENSP00000254108.7:p.Ile310=
ENST00000380244.7:c.927T>C	ENSP00000369594.3:p.Ile309=
ENST00000474990.5:n.224T>C
ENST00000487509.6:n.4105T>C
ENST00000564766.1:n.754T>C
ENST00000566605.5:c.*103T>C	ENSP00000455073.1:n.*103T>C
ENST00000568685.1:c.933T>C	ENSP00000455282.1:p.Ile311=
ENST00000568901.2:n.304T>C
NM_001170634.1:c.927T>C	NP_001164105.1:p.Ile309=
NM_001170937.1:c.918T>C	NP_001164408.1:p.Ile306=
NM_004960.3:c.930T>C , LRG_655t1:c.930T>C	NP_004951.1:p.Ile310=
NR_028388.2:n.1000T>C
XM_005255233.3:c.315T>C	XP_005255290.1:p.Ile105=
XM_011545781.1:c.924T>C	XP_011544083.1:p.Ile308=
XM_011545782.1:c.315T>C	XP_011544084.1:p.Ile105=
XM_005255233.5:c.315T>C	XP_005255290.1:p.Ile105=
XM_011545782.2:c.315T>C	XP_011544084.1:p.Ile105=
XM_024450221.1:c.921T>C	XP_024305989.1:p.Ile307=
NM_004960.4:c.930T>C MANE Select	NP_004951.1:p.Ile310=