Canonical Allele Identifier: CA392322728

Gene: FBN1

Linked Data

• gnomAD v4: 15-48415590-G-A
• MyVariant Identifiers: chr15:g.48707787G>A (hg19) ; chr15:g.48415590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415590G>A , CM000677.2:g.48415590G>A	GRCh38
NC_000015.9:g.48707787G>A , CM000677.1:g.48707787G>A	GRCh37
NC_000015.8:g.46495079G>A	NCBI36
NG_008805.2:g.235199C>T , LRG_778:g.235199C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*805C>T	ENSP00000453958.2:n.*805C>T
ENST00000674301.2:c.*1510C>T	ENSP00000501333.2:n.*1510C>T
ENST00000682158.1:n.1378C>T
ENST00000682170.1:n.2178C>T
ENST00000682767.1:n.1294C>T
ENST00000316623.10:c.7997C>T MANE Select	ENSP00000325527.5:p.Thr2666Ile
ENST00000674301.1:c.3163C>T	ENSP00000501333.1:n.3163C>T
ENST00000316623.9:c.7997C>T	ENSP00000325527.5:p.Thr2666Ile
ENST00000559133.5:c.3366C>T
ENST00000561429.1:n.252C>T
NM_000138.4:c.7997C>T , LRG_778t1:c.7997C>T	NP_000129.3:p.Thr2666Ile
NM_000138.5:c.7997C>T MANE Select	NP_000129.3:p.Thr2666Ile