Canonical Allele Identifier: CA2175497521

Gene: FBN1

Linked Data

• dbSNP Id: rs2042994756

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428137A>G , CM000677.2:g.48428137A>G	GRCh38
NC_000015.9:g.48720334A>G , CM000677.1:g.48720334A>G	GRCh37
NC_000015.8:g.46507626A>G	NCBI36
NG_008805.2:g.222652T>C , LRG_778:g.222652T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-194T>C	ENSP00000453958.2:n.6998-194T>C
ENST00000674301.2:c.*449-194T>C	ENSP00000501333.2:n.*449-194T>C
ENST00000682170.1:n.815T>C
ENST00000682767.1:n.233-194T>C
ENST00000316623.10:c.6997+209T>C MANE Select	ENSP00000325527.5:n.6997+209T>C
ENST00000674301.1:c.2102-194T>C	ENSP00000501333.1:n.2102-194T>C
ENST00000316623.9:c.6997+209T>C	ENSP00000325527.5:n.6997+209T>C
ENST00000559133.5:c.2305-194T>C
ENST00000560720.1:n.493T>C
NM_000138.4:c.6997+209T>C , LRG_778t1:c.6997+209T>C	NP_000129.3:n.6997+209T>C
NM_000138.5:c.6997+209T>C MANE Select	NP_000129.3:n.6997+209T>C