Canonical Allele Identifier: CA269518597

Gene: FBN1

Linked Data

• ClinVar Variation Id: 949976
• ClinVar RCV Id: RCV001221579
• dbSNP Id: rs113170280
• MyVariant Identifiers: chr15:g.48703359A>T (hg19) ; chr15:g.48411162A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411162A>T , CM000677.2:g.48411162A>T	GRCh38
NC_000015.9:g.48703359A>T , CM000677.1:g.48703359A>T	GRCh37
NC_000015.8:g.46490651A>T	NCBI36
NG_008805.2:g.239627T>A , LRG_778:g.239627T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1252T>A	ENSP00000453958.2:n.*1252T>A
ENST00000674301.2:c.*1957T>A	ENSP00000501333.2:n.*1957T>A
ENST00000682158.1:n.1825T>A
ENST00000682170.1:n.2625T>A
ENST00000682767.1:n.1741T>A
ENST00000316623.10:c.8444T>A MANE Select	ENSP00000325527.5:p.Leu2815His
ENST00000674301.1:c.3610T>A	ENSP00000501333.1:n.3610T>A
ENST00000316623.9:c.8444T>A	ENSP00000325527.5:p.Leu2815His
ENST00000559133.5:c.3813T>A
NM_000138.4:c.8444T>A , LRG_778t1:c.8444T>A	NP_000129.3:p.Leu2815His
NM_000138.5:c.8444T>A MANE Select	NP_000129.3:p.Leu2815His