Canonical Allele Identifier: CA280600036

Gene: FUS

Linked Data

• dbSNP Id: rs986829960
• gnomAD v2: 16-31200403-T-C
• gnomAD v3: 16-31189082-T-C
• gnomAD v4: 16-31189082-T-C
• MyVariant Identifiers: chr16:g.31200403T>C (hg19) ; chr16:g.31189082T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31189082T>C , CM000678.2:g.31189082T>C	GRCh38
NC_000016.9:g.31200403T>C , CM000678.1:g.31200403T>C	GRCh37
NC_000016.8:g.31107904T>C	NCBI36
NG_012889.2:g.13951T>C , LRG_655:g.13951T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.833-41T>C MANE Select	ENSP00000254108.8:n.833-41T>C
ENST00000254108.11:c.833-41T>C	ENSP00000254108.7:n.833-41T>C
ENST00000380244.7:c.830-41T>C	ENSP00000369594.3:n.830-41T>C
ENST00000474990.5:n.127-41T>C
ENST00000487509.6:n.4008-41T>C
ENST00000564766.1:n.616T>C
ENST00000566605.5:c.*6-41T>C	ENSP00000455073.1:n.*6-41T>C
ENST00000568685.1:c.833-38T>C	ENSP00000455282.1:n.833-38T>C
ENST00000568901.2:n.207-41T>C
NM_001170634.1:c.830-41T>C	NP_001164105.1:n.830-41T>C
NM_001170937.1:c.821-41T>C	NP_001164408.1:n.821-41T>C
NM_004960.3:c.833-41T>C , LRG_655t1:c.833-41T>C	NP_004951.1:n.833-41T>C
NR_028388.2:n.903-41T>C
XM_005255233.3:c.218-41T>C	XP_005255290.1:n.218-41T>C
XM_011545781.1:c.827-41T>C	XP_011544083.1:n.827-41T>C
XM_011545782.1:c.218-41T>C	XP_011544084.1:n.218-41T>C
XM_005255233.5:c.218-41T>C	XP_005255290.1:n.218-41T>C
XM_011545782.2:c.218-41T>C	XP_011544084.1:n.218-41T>C
XM_024450221.1:c.824-41T>C	XP_024305989.1:n.824-41T>C
NM_004960.4:c.833-41T>C MANE Select	NP_004951.1:n.833-41T>C