Canonical Allele Identifier: CA392326199

Gene: FBN1

Linked Data

• ClinVar Variation Id: 948459
• ClinVar RCV Id: RCV001219717
• dbSNP Id: rs1057520728
• MyVariant Identifiers: chr15:g.48714254A>T (hg19) ; chr15:g.48422057A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422057A>T , CM000677.2:g.48422057A>T	GRCh38
NC_000015.9:g.48714254A>T , CM000677.1:g.48714254A>T	GRCh37
NC_000015.8:g.46501546A>T	NCBI36
NG_008805.2:g.228732T>A , LRG_778:g.228732T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*273T>A	ENSP00000453958.2:n.*273T>A
ENST00000674301.2:c.*978T>A	ENSP00000501333.2:n.*978T>A
ENST00000682170.1:n.1646T>A
ENST00000682767.1:n.762T>A
ENST00000316623.10:c.7465T>A MANE Select	ENSP00000325527.5:p.Cys2489Ser
ENST00000674301.1:c.2631T>A	ENSP00000501333.1:n.2631T>A
ENST00000316623.9:c.7465T>A	ENSP00000325527.5:p.Cys2489Ser
ENST00000559133.5:c.2834T>A
NM_000138.4:c.7465T>A , LRG_778t1:c.7465T>A	NP_000129.3:p.Cys2489Ser
NM_000138.5:c.7465T>A MANE Select	NP_000129.3:p.Cys2489Ser