Canonical Allele Identifier: CA494713732

Gene: FUS

Linked Data

• dbSNP Id: rs1363369336
• gnomAD v4: 16-31189223-T-C
• MyVariant Identifiers: chr16:g.31200544T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31189223T>C , CM000678.2:g.31189223T>C	GRCh38
NC_000016.9:g.31200544T>C , CM000678.1:g.31200544T>C	GRCh37
NC_000016.8:g.31108045T>C	NCBI36
NG_012889.2:g.14092T>C , LRG_655:g.14092T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.933T>C MANE Select	ENSP00000254108.8:p.Ile311=
ENST00000254108.11:c.933T>C	ENSP00000254108.7:p.Ile311=
ENST00000380244.7:c.930T>C	ENSP00000369594.3:p.Ile310=
ENST00000474990.5:n.227T>C
ENST00000487509.6:n.4108T>C
ENST00000564766.1:n.757T>C
ENST00000566605.5:c.*106T>C	ENSP00000455073.1:n.*106T>C
ENST00000568685.1:c.936T>C	ENSP00000455282.1:p.Ile312=
ENST00000568901.2:n.307T>C
NM_001170634.1:c.930T>C	NP_001164105.1:p.Ile310=
NM_001170937.1:c.921T>C	NP_001164408.1:p.Ile307=
NM_004960.3:c.933T>C , LRG_655t1:c.933T>C	NP_004951.1:p.Ile311=
NR_028388.2:n.1003T>C
XM_005255233.3:c.318T>C	XP_005255290.1:p.Ile106=
XM_011545781.1:c.927T>C	XP_011544083.1:p.Ile309=
XM_011545782.1:c.318T>C	XP_011544084.1:p.Ile106=
XM_005255233.5:c.318T>C	XP_005255290.1:p.Ile106=
XM_011545782.2:c.318T>C	XP_011544084.1:p.Ile106=
XM_024450221.1:c.924T>C	XP_024305989.1:p.Ile308=
NM_004960.4:c.933T>C MANE Select	NP_004951.1:p.Ile311=