Canonical Allele Identifier: CA059248

Gene: FBN1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415771C>T , CM000677.2:g.48415771C>T	GRCh38
NC_000015.9:g.48707968C>T , CM000677.1:g.48707968C>T	GRCh37
NC_000015.8:g.46495260C>T	NCBI36
NG_008805.2:g.235018G>A , LRG_778:g.235018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*628-4G>A	ENSP00000453958.2:n.*628-4G>A
ENST00000674301.2:c.*1333-4G>A	ENSP00000501333.2:n.*1333-4G>A
ENST00000682158.1:n.1197G>A
ENST00000682170.1:n.2001-4G>A
ENST00000682767.1:n.1117-4G>A
ENST00000316623.10:c.7820-4G>A MANE Select	ENSP00000325527.5:n.7820-4G>A
ENST00000674301.1:c.2986-4G>A	ENSP00000501333.1:n.2986-4G>A
ENST00000316623.9:c.7820-4G>A	ENSP00000325527.5:n.7820-4G>A
ENST00000559133.5:c.3189-4G>A
ENST00000561429.1:n.75-4G>A
NM_000138.4:c.7820-4G>A , LRG_778t1:c.7820-4G>A	NP_000129.3:n.7820-4G>A
NM_000138.5:c.7820-4G>A MANE Select	NP_000129.3:n.7820-4G>A