Canonical Allele Identifier: CA392327788

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519787
• ClinVar RCV Id: RCV002313272 ; RCV002531821
• dbSNP Id: rs1555394400
• MyVariant Identifiers: chr15:g.48717616C>T (hg19) ; chr15:g.48425419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425419C>T , CM000677.2:g.48425419C>T	GRCh38
NC_000015.9:g.48717616C>T , CM000677.1:g.48717616C>T	GRCh37
NC_000015.8:g.46504908C>T	NCBI36
NG_008805.2:g.225370G>A , LRG_778:g.225370G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*211G>A	ENSP00000453958.2:n.*211G>A
ENST00000674301.2:c.*916G>A	ENSP00000501333.2:n.*916G>A
ENST00000682170.1:n.1584G>A
ENST00000682767.1:n.700G>A
ENST00000316623.10:c.7403G>A MANE Select	ENSP00000325527.5:p.Cys2468Tyr
ENST00000674301.1:c.2569G>A	ENSP00000501333.1:n.2569G>A
ENST00000316623.9:c.7403G>A	ENSP00000325527.5:p.Cys2468Tyr
ENST00000559133.5:c.2772G>A
NM_000138.4:c.7403G>A , LRG_778t1:c.7403G>A	NP_000129.3:p.Cys2468Tyr
NM_000138.5:c.7403G>A MANE Select	NP_000129.3:p.Cys2468Tyr