Canonical Allele Identifier: CA2628331246

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428080-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428080T>A , CM000677.2:g.48428080T>A	GRCh38
NC_000015.9:g.48720277T>A , CM000677.1:g.48720277T>A	GRCh37
NC_000015.8:g.46507569T>A	NCBI36
NG_008805.2:g.222709A>T , LRG_778:g.222709A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-137A>T	ENSP00000453958.2:n.6998-137A>T
ENST00000674301.2:c.*449-137A>T	ENSP00000501333.2:n.*449-137A>T
ENST00000682170.1:n.872A>T
ENST00000682767.1:n.233-137A>T
ENST00000316623.10:c.6997+266A>T MANE Select	ENSP00000325527.5:n.6997+266A>T
ENST00000674301.1:c.2102-137A>T	ENSP00000501333.1:n.2102-137A>T
ENST00000316623.9:c.6997+266A>T	ENSP00000325527.5:n.6997+266A>T
ENST00000559133.5:c.2305-137A>T
ENST00000560720.1:n.550A>T
NM_000138.4:c.6997+266A>T , LRG_778t1:c.6997+266A>T	NP_000129.3:n.6997+266A>T
NM_000138.5:c.6997+266A>T MANE Select	NP_000129.3:n.6997+266A>T