Canonical Allele Identifier: CA392319514

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2442978
• ClinVar RCV Id: RCV003150784
• MyVariant Identifiers: chr15:g.48703464A>T (hg19) ; chr15:g.48411267A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411267A>T , CM000677.2:g.48411267A>T	GRCh38
NC_000015.9:g.48703464A>T , CM000677.1:g.48703464A>T	GRCh37
NC_000015.8:g.46490756A>T	NCBI36
NG_008805.2:g.239522T>A , LRG_778:g.239522T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1147T>A	ENSP00000453958.2:n.*1147T>A
ENST00000674301.2:c.*1852T>A	ENSP00000501333.2:n.*1852T>A
ENST00000682158.1:n.1720T>A
ENST00000682170.1:n.2520T>A
ENST00000682767.1:n.1636T>A
ENST00000316623.10:c.8339T>A MANE Select	ENSP00000325527.5:p.Leu2780His
ENST00000674301.1:c.3505T>A	ENSP00000501333.1:n.3505T>A
ENST00000316623.9:c.8339T>A	ENSP00000325527.5:p.Leu2780His
ENST00000559133.5:c.3708T>A
ENST00000561429.1:n.594T>A
NM_000138.4:c.8339T>A , LRG_778t1:c.8339T>A	NP_000129.3:p.Leu2780His
NM_000138.5:c.8339T>A MANE Select	NP_000129.3:p.Leu2780His