Canonical Allele Identifier: CA2730575753

Gene: FBN1

Linked Data

• dbSNP Id: rs572619690

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409274G>A , CM000677.2:g.48409274G>A	GRCh38
NC_000015.9:g.48701471G>A , CM000677.1:g.48701471G>A	GRCh37
NC_000015.8:g.46488763G>A	NCBI36
NG_008805.2:g.241515C>T , LRG_778:g.241515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4513C>T
ENST00000682767.1:n.3629C>T
ENST00000316623.10:c.*1716C>T MANE Select	ENSP00000325527.5:n.*1716C>T
ENST00000316623.9:c.*1716C>T	ENSP00000325527.5:n.*1716C>T
NM_000138.4:c.*1716C>T , LRG_778t1:c.*1716C>T	NP_000129.3:n.*1716C>T
NM_000138.5:c.*1716C>T MANE Select	NP_000129.3:n.*1716C>T