Canonical Allele Identifier: CA2628329826

Gene: FBN1

Linked Data

• gnomAD v4: 15-48422093-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422093T>A , CM000677.2:g.48422093T>A	GRCh38
NC_000015.9:g.48714290T>A , CM000677.1:g.48714290T>A	GRCh37
NC_000015.8:g.46501582T>A	NCBI36
NG_008805.2:g.228696A>T , LRG_778:g.228696A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-25A>T	ENSP00000453958.2:n.*262-25A>T
ENST00000674301.2:c.*967-25A>T	ENSP00000501333.2:n.*967-25A>T
ENST00000682170.1:n.1635-25A>T
ENST00000682767.1:n.751-25A>T
ENST00000316623.10:c.7454-25A>T MANE Select	ENSP00000325527.5:n.7454-25A>T
ENST00000674301.1:c.2620-25A>T	ENSP00000501333.1:n.2620-25A>T
ENST00000316623.9:c.7454-25A>T	ENSP00000325527.5:n.7454-25A>T
ENST00000559133.5:c.2823-25A>T
NM_000138.4:c.7454-25A>T , LRG_778t1:c.7454-25A>T	NP_000129.3:n.7454-25A>T
NM_000138.5:c.7454-25A>T MANE Select	NP_000129.3:n.7454-25A>T