Canonical Allele Identifier: CA2580089606

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2024096
• ClinVar RCV Id: RCV002863060

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425353G>T , CM000677.2:g.48425353G>T	GRCh38
NC_000015.9:g.48717550G>T , CM000677.1:g.48717550G>T	GRCh37
NC_000015.8:g.46504842G>T	NCBI36
NG_008805.2:g.225436C>A , LRG_778:g.225436C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*261+16C>A	ENSP00000453958.2:n.*261+16C>A
ENST00000674301.2:c.*966+16C>A	ENSP00000501333.2:n.*966+16C>A
ENST00000682170.1:n.1634+16C>A
ENST00000682767.1:n.750+16C>A
ENST00000316623.10:c.7453+16C>A MANE Select	ENSP00000325527.5:n.7453+16C>A
ENST00000674301.1:c.2619+16C>A	ENSP00000501333.1:n.2619+16C>A
ENST00000316623.9:c.7453+16C>A	ENSP00000325527.5:n.7453+16C>A
ENST00000559133.5:c.2822+16C>A
NM_000138.4:c.7453+16C>A , LRG_778t1:c.7453+16C>A	NP_000129.3:n.7453+16C>A
NM_000138.5:c.7453+16C>A MANE Select	NP_000129.3:n.7453+16C>A