Canonical Allele Identifier: CA2510865717

Gene: FBN1

Linked Data

• gnomAD v4: 15-48410911-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410911T>A , CM000677.2:g.48410911T>A	GRCh38
NC_000015.9:g.48703108T>A , CM000677.1:g.48703108T>A	GRCh37
NC_000015.8:g.46490400T>A	NCBI36
NG_008805.2:g.239878A>T , LRG_778:g.239878A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1503A>T	ENSP00000453958.2:n.*1503A>T
ENST00000682158.1:n.2076A>T
ENST00000682170.1:n.2876A>T
ENST00000682767.1:n.1992A>T
ENST00000316623.10:c.*79A>T MANE Select	ENSP00000325527.5:n.*79A>T
ENST00000316623.9:c.*79A>T	ENSP00000325527.5:n.*79A>T
ENST00000559133.5:c.4064A>T
NM_000138.4:c.*79A>T , LRG_778t1:c.*79A>T	NP_000129.3:n.*79A>T
NM_000138.5:c.*79A>T MANE Select	NP_000129.3:n.*79A>T