Canonical Allele Identifier: CA058786

Gene: FBN1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421962C>T , CM000677.2:g.48421962C>T	GRCh38
NC_000015.9:g.48714159C>T , CM000677.1:g.48714159C>T	GRCh37
NC_000015.8:g.46501451C>T	NCBI36
NG_008805.2:g.228827G>A , LRG_778:g.228827G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*368G>A	ENSP00000453958.2:n.*368G>A
ENST00000674301.2:c.*1073G>A	ENSP00000501333.2:n.*1073G>A
ENST00000682170.1:n.1741G>A
ENST00000682767.1:n.857G>A
ENST00000316623.10:c.7560G>A MANE Select	ENSP00000325527.5:p.Thr2520=
ENST00000674301.1:c.2726G>A	ENSP00000501333.1:n.2726G>A
ENST00000316623.9:c.7560G>A	ENSP00000325527.5:p.Thr2520=
ENST00000559133.5:c.2929G>A
NM_000138.4:c.7560G>A , LRG_778t1:c.7560G>A	NP_000129.3:p.Thr2520=
NM_000138.5:c.7560G>A MANE Select	NP_000129.3:p.Thr2520=