Canonical Allele Identifier: CA2628330603

Gene: FBN1

Linked Data

• gnomAD v4: 15-48427476-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427476A>T , CM000677.2:g.48427476A>T	GRCh38
NC_000015.9:g.48719673A>T , CM000677.1:g.48719673A>T	GRCh37
NC_000015.8:g.46506965A>T	NCBI36
NG_008805.2:g.223313T>A , LRG_778:g.223313T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*12+91T>A	ENSP00000453958.2:n.*12+91T>A
ENST00000674301.2:c.*717+91T>A	ENSP00000501333.2:n.*717+91T>A
ENST00000682170.1:n.1385+91T>A
ENST00000682767.1:n.501+91T>A
ENST00000316623.10:c.7204+91T>A MANE Select	ENSP00000325527.5:n.7204+91T>A
ENST00000674301.1:c.2370+91T>A	ENSP00000501333.1:n.2370+91T>A
ENST00000316623.9:c.7204+91T>A	ENSP00000325527.5:n.7204+91T>A
ENST00000559133.5:c.2573+91T>A
NM_000138.4:c.7204+91T>A , LRG_778t1:c.7204+91T>A	NP_000129.3:n.7204+91T>A
NM_000138.5:c.7204+91T>A MANE Select	NP_000129.3:n.7204+91T>A