Canonical Allele Identifier: CA392322973

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1452826
• ClinVar RCV Id: RCV001994649
• dbSNP Id: rs1555393858
• MyVariant Identifiers: chr15:g.48707830A>T (hg19) ; chr15:g.48415633A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415633A>T , CM000677.2:g.48415633A>T	GRCh38
NC_000015.9:g.48707830A>T , CM000677.1:g.48707830A>T	GRCh37
NC_000015.8:g.46495122A>T	NCBI36
NG_008805.2:g.235156T>A , LRG_778:g.235156T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*762T>A	ENSP00000453958.2:n.*762T>A
ENST00000674301.2:c.*1467T>A	ENSP00000501333.2:n.*1467T>A
ENST00000682158.1:n.1335T>A
ENST00000682170.1:n.2135T>A
ENST00000682767.1:n.1251T>A
ENST00000316623.10:c.7954T>A MANE Select	ENSP00000325527.5:p.Cys2652Ser
ENST00000674301.1:c.3120T>A	ENSP00000501333.1:n.3120T>A
ENST00000316623.9:c.7954T>A	ENSP00000325527.5:p.Cys2652Ser
ENST00000559133.5:c.3323T>A
ENST00000561429.1:n.209T>A
NM_000138.4:c.7954T>A , LRG_778t1:c.7954T>A	NP_000129.3:p.Cys2652Ser
NM_000138.5:c.7954T>A MANE Select	NP_000129.3:p.Cys2652Ser