Canonical Allele Identifier: CA2499222956

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1074530
• ClinVar RCV Id: RCV001387857
• dbSNP Id: rs2141210158

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411371dup , CM000677.2:g.48411371dup	GRCh38
NC_000015.9:g.48703568dup , CM000677.1:g.48703568dup	GRCh37
NC_000015.8:g.46490860dup	NCBI36
NG_008805.2:g.239418dup , LRG_778:g.239418dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1043dup	ENSP00000453958.2:n.*1043dup
ENST00000674301.2:c.*1748dup	ENSP00000501333.2:n.*1748dup
ENST00000682158.1:n.1616dup
ENST00000682170.1:n.2416dup
ENST00000682767.1:n.1532dup
ENST00000316623.10:c.8235dup MANE Select	ENSP00000325527.5:p.Glu2746Ter
ENST00000674301.1:c.3401dup	ENSP00000501333.1:n.3401dup
ENST00000316623.9:c.8235dup	ENSP00000325527.5:p.Glu2746Ter
ENST00000559133.5:c.3604dup
ENST00000561429.1:n.490dup
NM_000138.4:c.8235dup , LRG_778t1:c.8235dup	NP_000129.3:p.Glu2746Ter
NM_000138.5:c.8235dup MANE Select	NP_000129.3:p.Glu2746Ter