Canonical Allele Identifier: CA2628325054

Gene: FBN1

Linked Data

• gnomAD v4: 15-48411414-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411414G>A , CM000677.2:g.48411414G>A	GRCh38
NC_000015.9:g.48703611G>A , CM000677.1:g.48703611G>A	GRCh37
NC_000015.8:g.46490903G>A	NCBI36
NG_008805.2:g.239375C>T , LRG_778:g.239375C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1035-35C>T	ENSP00000453958.2:n.*1035-35C>T
ENST00000674301.2:c.*1740-35C>T	ENSP00000501333.2:n.*1740-35C>T
ENST00000682158.1:n.1608-35C>T
ENST00000682170.1:n.2408-35C>T
ENST00000682767.1:n.1524-35C>T
ENST00000316623.10:c.8227-35C>T MANE Select	ENSP00000325527.5:n.8227-35C>T
ENST00000674301.1:c.3393-35C>T	ENSP00000501333.1:n.3393-35C>T
ENST00000316623.9:c.8227-35C>T	ENSP00000325527.5:n.8227-35C>T
ENST00000559133.5:c.3596-35C>T
ENST00000561429.1:n.482-35C>T
NM_000138.4:c.8227-35C>T , LRG_778t1:c.8227-35C>T	NP_000129.3:n.8227-35C>T
NM_000138.5:c.8227-35C>T MANE Select	NP_000129.3:n.8227-35C>T