Canonical Allele Identifier: CA395672455

Gene: FUS

Linked Data

• gnomAD v4: 16-31189209-C-G
• MyVariant Identifiers: chr16:g.31200530C>G (hg19) ; chr16:g.31189209C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31189209C>G , CM000678.2:g.31189209C>G	GRCh38
NC_000016.9:g.31200530C>G , CM000678.1:g.31200530C>G	GRCh37
NC_000016.8:g.31108031C>G	NCBI36
NG_012889.2:g.14078C>G , LRG_655:g.14078C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.919C>G MANE Select	ENSP00000254108.8:p.Gln307Glu
ENST00000254108.11:c.919C>G	ENSP00000254108.7:p.Gln307Glu
ENST00000380244.7:c.916C>G	ENSP00000369594.3:p.Gln306Glu
ENST00000474990.5:n.213C>G
ENST00000487509.6:n.4094C>G
ENST00000564766.1:n.743C>G
ENST00000566605.5:c.*92C>G	ENSP00000455073.1:n.*92C>G
ENST00000568685.1:c.922C>G	ENSP00000455282.1:p.Gln308Glu
ENST00000568901.2:n.293C>G
NM_001170634.1:c.916C>G	NP_001164105.1:p.Gln306Glu
NM_001170937.1:c.907C>G	NP_001164408.1:p.Gln303Glu
NM_004960.3:c.919C>G , LRG_655t1:c.919C>G	NP_004951.1:p.Gln307Glu
NR_028388.2:n.989C>G
XM_005255233.3:c.304C>G	XP_005255290.1:p.Gln102Glu
XM_011545781.1:c.913C>G	XP_011544083.1:p.Gln305Glu
XM_011545782.1:c.304C>G	XP_011544084.1:p.Gln102Glu
XM_005255233.5:c.304C>G	XP_005255290.1:p.Gln102Glu
XM_011545782.2:c.304C>G	XP_011544084.1:p.Gln102Glu
XM_024450221.1:c.910C>G	XP_024305989.1:p.Gln304Glu
NM_004960.4:c.919C>G MANE Select	NP_004951.1:p.Gln307Glu