Canonical Allele Identifier: CA2628325016

Gene: FBN1

Linked Data

• gnomAD v4: 15-48410925-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410925G>A , CM000677.2:g.48410925G>A	GRCh38
NC_000015.9:g.48703122G>A , CM000677.1:g.48703122G>A	GRCh37
NC_000015.8:g.46490414G>A	NCBI36
NG_008805.2:g.239864C>T , LRG_778:g.239864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1489C>T	ENSP00000453958.2:n.*1489C>T
ENST00000682158.1:n.2062C>T
ENST00000682170.1:n.2862C>T
ENST00000682767.1:n.1978C>T
ENST00000316623.10:c.*65C>T MANE Select	ENSP00000325527.5:n.*65C>T
ENST00000316623.9:c.*65C>T	ENSP00000325527.5:n.*65C>T
ENST00000559133.5:c.4050C>T
NM_000138.4:c.*65C>T , LRG_778t1:c.*65C>T	NP_000129.3:n.*65C>T
NM_000138.5:c.*65C>T MANE Select	NP_000129.3:n.*65C>T