Canonical Allele Identifier: CA969542616

Gene: FBN1

Linked Data

• dbSNP Id: rs2042994373
• gnomAD v3: 15-48428093-C-T
• gnomAD v4: 15-48428093-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428093C>T , CM000677.2:g.48428093C>T	GRCh38
NC_000015.9:g.48720290C>T , CM000677.1:g.48720290C>T	GRCh37
NC_000015.8:g.46507582C>T	NCBI36
NG_008805.2:g.222696G>A , LRG_778:g.222696G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-150G>A	ENSP00000453958.2:n.6998-150G>A
ENST00000674301.2:c.*449-150G>A	ENSP00000501333.2:n.*449-150G>A
ENST00000682170.1:n.859G>A
ENST00000682767.1:n.233-150G>A
ENST00000316623.10:c.6997+253G>A MANE Select	ENSP00000325527.5:n.6997+253G>A
ENST00000674301.1:c.2102-150G>A	ENSP00000501333.1:n.2102-150G>A
ENST00000316623.9:c.6997+253G>A	ENSP00000325527.5:n.6997+253G>A
ENST00000559133.5:c.2305-150G>A
ENST00000560720.1:n.537G>A
NM_000138.4:c.6997+253G>A , LRG_778t1:c.6997+253G>A	NP_000129.3:n.6997+253G>A
NM_000138.5:c.6997+253G>A MANE Select	NP_000129.3:n.6997+253G>A