Canonical Allele Identifier: CA656135685

Gene: FBN1

Linked Data

• COSMIC: COSN19768688

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425348C>T , CM000677.2:g.48425348C>T	GRCh38
NC_000015.9:g.48717545C>T , CM000677.1:g.48717545C>T	GRCh37
NC_000015.8:g.46504837C>T	NCBI36
NG_008805.2:g.225441G>A , LRG_778:g.225441G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*261+21G>A	ENSP00000453958.2:n.*261+21G>A
ENST00000674301.2:c.*966+21G>A	ENSP00000501333.2:n.*966+21G>A
ENST00000682170.1:n.1634+21G>A
ENST00000682767.1:n.750+21G>A
ENST00000316623.10:c.7453+21G>A MANE Select	ENSP00000325527.5:n.7453+21G>A
ENST00000674301.1:c.2619+21G>A	ENSP00000501333.1:n.2619+21G>A
ENST00000316623.9:c.7453+21G>A	ENSP00000325527.5:n.7453+21G>A
ENST00000559133.5:c.2822+21G>A
NM_000138.4:c.7453+21G>A , LRG_778t1:c.7453+21G>A	NP_000129.3:n.7453+21G>A
NM_000138.5:c.7453+21G>A MANE Select	NP_000129.3:n.7453+21G>A