Canonical Allele Identifier: CA2175497456

Gene: FBN1

Linked Data

• dbSNP Id: rs2042994266

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428079G>C , CM000677.2:g.48428079G>C	GRCh38
NC_000015.9:g.48720276G>C , CM000677.1:g.48720276G>C	GRCh37
NC_000015.8:g.46507568G>C	NCBI36
NG_008805.2:g.222710C>G , LRG_778:g.222710C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-136C>G	ENSP00000453958.2:n.6998-136C>G
ENST00000674301.2:c.*449-136C>G	ENSP00000501333.2:n.*449-136C>G
ENST00000682170.1:n.873C>G
ENST00000682767.1:n.233-136C>G
ENST00000316623.10:c.6997+267C>G MANE Select	ENSP00000325527.5:n.6997+267C>G
ENST00000674301.1:c.2102-136C>G	ENSP00000501333.1:n.2102-136C>G
ENST00000316623.9:c.6997+267C>G	ENSP00000325527.5:n.6997+267C>G
ENST00000559133.5:c.2305-136C>G
ENST00000560720.1:n.551C>G
NM_000138.4:c.6997+267C>G , LRG_778t1:c.6997+267C>G	NP_000129.3:n.6997+267C>G
NM_000138.5:c.6997+267C>G MANE Select	NP_000129.3:n.6997+267C>G