Canonical Allele Identifier: CA392325834

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549415
• ClinVar RCV Id: RCV000663962
• dbSNP Id: rs1555394235
• MyVariant Identifiers: chr15:g.48714153G>T (hg19) ; chr15:g.48421956G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421956G>T , CM000677.2:g.48421956G>T	GRCh38
NC_000015.9:g.48714153G>T , CM000677.1:g.48714153G>T	GRCh37
NC_000015.8:g.46501445G>T	NCBI36
NG_008805.2:g.228833C>A , LRG_778:g.228833C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*374C>A	ENSP00000453958.2:n.*374C>A
ENST00000674301.2:c.*1079C>A	ENSP00000501333.2:n.*1079C>A
ENST00000682170.1:n.1747C>A
ENST00000682767.1:n.863C>A
ENST00000316623.10:c.7566C>A MANE Select	ENSP00000325527.5:p.Cys2522Ter
ENST00000674301.1:c.2732C>A	ENSP00000501333.1:n.2732C>A
ENST00000316623.9:c.7566C>A	ENSP00000325527.5:p.Cys2522Ter
ENST00000559133.5:c.2935C>A
NM_000138.4:c.7566C>A , LRG_778t1:c.7566C>A	NP_000129.3:p.Cys2522Ter
NM_000138.5:c.7566C>A MANE Select	NP_000129.3:p.Cys2522Ter