Canonical Allele Identifier: CA8023860

Gene: FUS

Linked Data

• ClinVar Variation Id: 1218785
• ClinVar RCV Id: RCV001593981
• dbSNP Id: rs72550862
• ExAC: 16:31200415 C / T
• gnomAD v2: 16-31200415-C-T
• gnomAD v3: 16-31189094-C-T
• gnomAD v4: 16-31189094-C-T
• MyVariant Identifiers: chr16:g.31200415C>T (hg19) ; chr16:g.31189094C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31189094C>T , CM000678.2:g.31189094C>T	GRCh38
NC_000016.9:g.31200415C>T , CM000678.1:g.31200415C>T	GRCh37
NC_000016.8:g.31107916C>T	NCBI36
NG_012889.2:g.13963C>T , LRG_655:g.13963C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.833-29C>T MANE Select	ENSP00000254108.8:n.833-29C>T
ENST00000254108.11:c.833-29C>T	ENSP00000254108.7:n.833-29C>T
ENST00000380244.7:c.830-29C>T	ENSP00000369594.3:n.830-29C>T
ENST00000474990.5:n.127-29C>T
ENST00000487509.6:n.4008-29C>T
ENST00000564766.1:n.628C>T
ENST00000566605.5:c.*6-29C>T	ENSP00000455073.1:n.*6-29C>T
ENST00000568685.1:c.833-26C>T	ENSP00000455282.1:n.833-26C>T
ENST00000568901.2:n.207-29C>T
NM_001170634.1:c.830-29C>T	NP_001164105.1:n.830-29C>T
NM_001170937.1:c.821-29C>T	NP_001164408.1:n.821-29C>T
NM_004960.3:c.833-29C>T , LRG_655t1:c.833-29C>T	NP_004951.1:n.833-29C>T
NR_028388.2:n.903-29C>T
XM_005255233.3:c.218-29C>T	XP_005255290.1:n.218-29C>T
XM_011545781.1:c.827-29C>T	XP_011544083.1:n.827-29C>T
XM_011545782.1:c.218-29C>T	XP_011544084.1:n.218-29C>T
XM_005255233.5:c.218-29C>T	XP_005255290.1:n.218-29C>T
XM_011545782.2:c.218-29C>T	XP_011544084.1:n.218-29C>T
XM_024450221.1:c.824-29C>T	XP_024305989.1:n.824-29C>T
NM_004960.4:c.833-29C>T MANE Select	NP_004951.1:n.833-29C>T