Canonical Allele Identifier: CA2628325097

Gene: FBN1

Linked Data

• gnomAD v4: 15-48411495-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411495T>A , CM000677.2:g.48411495T>A	GRCh38
NC_000015.9:g.48703692T>A , CM000677.1:g.48703692T>A	GRCh37
NC_000015.8:g.46490984T>A	NCBI36
NG_008805.2:g.239294A>T , LRG_778:g.239294A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1035-116A>T	ENSP00000453958.2:n.*1035-116A>T
ENST00000674301.2:c.*1740-116A>T	ENSP00000501333.2:n.*1740-116A>T
ENST00000682158.1:n.1608-116A>T
ENST00000682170.1:n.2408-116A>T
ENST00000682767.1:n.1524-116A>T
ENST00000316623.10:c.8227-116A>T MANE Select	ENSP00000325527.5:n.8227-116A>T
ENST00000674301.1:c.3393-116A>T	ENSP00000501333.1:n.3393-116A>T
ENST00000316623.9:c.8227-116A>T	ENSP00000325527.5:n.8227-116A>T
ENST00000559133.5:c.3596-116A>T
ENST00000561429.1:n.482-116A>T
NM_000138.4:c.8227-116A>T , LRG_778t1:c.8227-116A>T	NP_000129.3:n.8227-116A>T
NM_000138.5:c.8227-116A>T MANE Select	NP_000129.3:n.8227-116A>T