Canonical Allele Identifier: CA2628330867

Gene: FBN1

Linked Data

• gnomAD v4: 15-48489726-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489726A>T , CM000677.2:g.48489726A>T	GRCh38
NC_000015.9:g.48781923A>T , CM000677.1:g.48781923A>T	GRCh37
NC_000015.8:g.46569215A>T	NCBI36
NG_008805.2:g.161063T>A , LRG_778:g.161063T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3082+125T>A	ENSP00000453958.2:n.3082+125T>A
ENST00000674301.2:c.3082+125T>A	ENSP00000501333.2:n.3082+125T>A
ENST00000684448.1:n.1756+125T>A
ENST00000316623.10:c.3082+125T>A MANE Select	ENSP00000325527.5:n.3082+125T>A
ENST00000316623.9:c.3082+125T>A	ENSP00000325527.5:n.3082+125T>A
ENST00000537463.6:c.637-15076T>A	ENSP00000440294.2:n.637-15076T>A
NM_000138.4:c.3082+125T>A , LRG_778t1:c.3082+125T>A	NP_000129.3:n.3082+125T>A
NM_000138.5:c.3082+125T>A MANE Select	NP_000129.3:n.3082+125T>A