Canonical Allele Identifier: CA2628324851

Gene: FBN1

Linked Data

• gnomAD v4: 15-48410684-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410684G>A , CM000677.2:g.48410684G>A	GRCh38
NC_000015.9:g.48702881G>A , CM000677.1:g.48702881G>A	GRCh37
NC_000015.8:g.46490173G>A	NCBI36
NG_008805.2:g.240105C>T , LRG_778:g.240105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1730C>T	ENSP00000453958.2:n.*1730C>T
ENST00000682158.1:n.2303C>T
ENST00000682170.1:n.3103C>T
ENST00000682767.1:n.2219C>T
ENST00000316623.10:c.*306C>T MANE Select	ENSP00000325527.5:n.*306C>T
ENST00000316623.9:c.*306C>T	ENSP00000325527.5:n.*306C>T
ENST00000559133.5:c.4291C>T
NM_000138.4:c.*306C>T , LRG_778t1:c.*306C>T	NP_000129.3:n.*306C>T
NM_000138.5:c.*306C>T MANE Select	NP_000129.3:n.*306C>T