Canonical Allele Identifier: CA2628331381

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428132-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428132G>T , CM000677.2:g.48428132G>T	GRCh38
NC_000015.9:g.48720329G>T , CM000677.1:g.48720329G>T	GRCh37
NC_000015.8:g.46507621G>T	NCBI36
NG_008805.2:g.222657C>A , LRG_778:g.222657C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-189C>A	ENSP00000453958.2:n.6998-189C>A
ENST00000674301.2:c.*449-189C>A	ENSP00000501333.2:n.*449-189C>A
ENST00000682170.1:n.820C>A
ENST00000682767.1:n.233-189C>A
ENST00000316623.10:c.6997+214C>A MANE Select	ENSP00000325527.5:n.6997+214C>A
ENST00000674301.1:c.2102-189C>A	ENSP00000501333.1:n.2102-189C>A
ENST00000316623.9:c.6997+214C>A	ENSP00000325527.5:n.6997+214C>A
ENST00000559133.5:c.2305-189C>A
ENST00000560720.1:n.498C>A
NM_000138.4:c.6997+214C>A , LRG_778t1:c.6997+214C>A	NP_000129.3:n.6997+214C>A
NM_000138.5:c.6997+214C>A MANE Select	NP_000129.3:n.6997+214C>A