Canonical Allele Identifier: CA969542607

Gene: FBN1

Linked Data

• dbSNP Id: rs2042994167
• gnomAD v3: 15-48428072-T-C
• gnomAD v4: 15-48428072-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428072T>C , CM000677.2:g.48428072T>C	GRCh38
NC_000015.9:g.48720269T>C , CM000677.1:g.48720269T>C	GRCh37
NC_000015.8:g.46507561T>C	NCBI36
NG_008805.2:g.222717A>G , LRG_778:g.222717A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-129A>G	ENSP00000453958.2:n.6998-129A>G
ENST00000674301.2:c.*449-129A>G	ENSP00000501333.2:n.*449-129A>G
ENST00000682170.1:n.880A>G
ENST00000682767.1:n.233-129A>G
ENST00000316623.10:c.6997+274A>G MANE Select	ENSP00000325527.5:n.6997+274A>G
ENST00000674301.1:c.2102-129A>G	ENSP00000501333.1:n.2102-129A>G
ENST00000316623.9:c.6997+274A>G	ENSP00000325527.5:n.6997+274A>G
ENST00000559133.5:c.2305-129A>G
ENST00000560720.1:n.558A>G
NM_000138.4:c.6997+274A>G , LRG_778t1:c.6997+274A>G	NP_000129.3:n.6997+274A>G
NM_000138.5:c.6997+274A>G MANE Select	NP_000129.3:n.6997+274A>G