Canonical Allele Identifier: CA2628330019

Gene: FBN1

Linked Data

• gnomAD v4: 15-48425316-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425316A>G , CM000677.2:g.48425316A>G	GRCh38
NC_000015.9:g.48717513A>G , CM000677.1:g.48717513A>G	GRCh37
NC_000015.8:g.46504805A>G	NCBI36
NG_008805.2:g.225473T>C , LRG_778:g.225473T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*261+53T>C	ENSP00000453958.2:n.*261+53T>C
ENST00000674301.2:c.*966+53T>C	ENSP00000501333.2:n.*966+53T>C
ENST00000682170.1:n.1634+53T>C
ENST00000682767.1:n.750+53T>C
ENST00000316623.10:c.7453+53T>C MANE Select	ENSP00000325527.5:n.7453+53T>C
ENST00000674301.1:c.2619+53T>C	ENSP00000501333.1:n.2619+53T>C
ENST00000316623.9:c.7453+53T>C	ENSP00000325527.5:n.7453+53T>C
ENST00000559133.5:c.2822+53T>C
NM_000138.4:c.7453+53T>C , LRG_778t1:c.7453+53T>C	NP_000129.3:n.7453+53T>C
NM_000138.5:c.7453+53T>C MANE Select	NP_000129.3:n.7453+53T>C