Canonical Allele Identifier: CA392321215

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1060073
• ClinVar RCV Id: RCV001369452
• dbSNP Id: rs2141211697
• gnomAD v4: 15-48412658-C-T
• MyVariant Identifiers: chr15:g.48704855C>T (hg19) ; chr15:g.48412658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412658C>T , CM000677.2:g.48412658C>T	GRCh38
NC_000015.9:g.48704855C>T , CM000677.1:g.48704855C>T	GRCh37
NC_000015.8:g.46492147C>T	NCBI36
NG_008805.2:g.238131G>A , LRG_778:g.238131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*945G>A	ENSP00000453958.2:n.*945G>A
ENST00000674301.2:c.*1650G>A	ENSP00000501333.2:n.*1650G>A
ENST00000682158.1:n.1518G>A
ENST00000682170.1:n.2318G>A
ENST00000682767.1:n.1434G>A
ENST00000316623.10:c.8137G>A MANE Select	ENSP00000325527.5:p.Glu2713Lys
ENST00000674301.1:c.3303G>A	ENSP00000501333.1:n.3303G>A
ENST00000316623.9:c.8137G>A	ENSP00000325527.5:p.Glu2713Lys
ENST00000559133.5:c.3506G>A
ENST00000561429.1:n.392G>A
NM_000138.4:c.8137G>A , LRG_778t1:c.8137G>A	NP_000129.3:p.Glu2713Lys
NM_000138.5:c.8137G>A MANE Select	NP_000129.3:p.Glu2713Lys