Canonical Allele Identifier: CA719933736

Gene: FUS

Linked Data

• dbSNP Id: rs1417715659
• gnomAD v4: 16-31189230-C-T
• MyVariant Identifiers: chr16:g.31200551C>T (hg19) ; chr16:g.31189230C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31189230C>T , CM000678.2:g.31189230C>T	GRCh38
NC_000016.9:g.31200551C>T , CM000678.1:g.31200551C>T	GRCh37
NC_000016.8:g.31108052C>T	NCBI36
NG_012889.2:g.14099C>T , LRG_655:g.14099C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.936+4C>T MANE Select	ENSP00000254108.8:n.936+4C>T
ENST00000254108.11:c.936+4C>T	ENSP00000254108.7:n.936+4C>T
ENST00000380244.7:c.933+4C>T	ENSP00000369594.3:n.933+4C>T
ENST00000474990.5:n.230+4C>T
ENST00000487509.6:n.4111+4C>T
ENST00000564766.1:n.760+4C>T
ENST00000566605.5:c.*109+4C>T	ENSP00000455073.1:n.*109+4C>T
ENST00000568685.1:c.939+4C>T	ENSP00000455282.1:n.939+4C>T
ENST00000568901.2:n.310+4C>T
NM_001170634.1:c.933+4C>T	NP_001164105.1:n.933+4C>T
NM_001170937.1:c.924+4C>T	NP_001164408.1:n.924+4C>T
NM_004960.3:c.936+4C>T , LRG_655t1:c.936+4C>T	NP_004951.1:n.936+4C>T
NR_028388.2:n.1006+4C>T
XM_005255233.3:c.321+4C>T	XP_005255290.1:n.321+4C>T
XM_011545781.1:c.930+4C>T	XP_011544083.1:n.930+4C>T
XM_011545782.1:c.321+4C>T	XP_011544084.1:n.321+4C>T
XM_005255233.5:c.321+4C>T	XP_005255290.1:n.321+4C>T
XM_011545782.2:c.321+4C>T	XP_011544084.1:n.321+4C>T
XM_024450221.1:c.927+4C>T	XP_024305989.1:n.927+4C>T
NM_004960.4:c.936+4C>T MANE Select	NP_004951.1:n.936+4C>T