Canonical Allele Identifier: CA2628325013

Gene: FBN1

Linked Data

• gnomAD v4: 15-48410920-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410920T>A , CM000677.2:g.48410920T>A	GRCh38
NC_000015.9:g.48703117T>A , CM000677.1:g.48703117T>A	GRCh37
NC_000015.8:g.46490409T>A	NCBI36
NG_008805.2:g.239869A>T , LRG_778:g.239869A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1494A>T	ENSP00000453958.2:n.*1494A>T
ENST00000682158.1:n.2067A>T
ENST00000682170.1:n.2867A>T
ENST00000682767.1:n.1983A>T
ENST00000316623.10:c.*70A>T MANE Select	ENSP00000325527.5:n.*70A>T
ENST00000316623.9:c.*70A>T	ENSP00000325527.5:n.*70A>T
ENST00000559133.5:c.4055A>T
NM_000138.4:c.*70A>T , LRG_778t1:c.*70A>T	NP_000129.3:n.*70A>T
NM_000138.5:c.*70A>T MANE Select	NP_000129.3:n.*70A>T