Canonical Allele Identifier: CA2628329831

Gene: FBN1

Linked Data

• gnomAD v4: 15-48422100-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422100C>T , CM000677.2:g.48422100C>T	GRCh38
NC_000015.9:g.48714297C>T , CM000677.1:g.48714297C>T	GRCh37
NC_000015.8:g.46501589C>T	NCBI36
NG_008805.2:g.228689G>A , LRG_778:g.228689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-32G>A	ENSP00000453958.2:n.*262-32G>A
ENST00000674301.2:c.*967-32G>A	ENSP00000501333.2:n.*967-32G>A
ENST00000682170.1:n.1635-32G>A
ENST00000682767.1:n.751-32G>A
ENST00000316623.10:c.7454-32G>A MANE Select	ENSP00000325527.5:n.7454-32G>A
ENST00000674301.1:c.2620-32G>A	ENSP00000501333.1:n.2620-32G>A
ENST00000316623.9:c.7454-32G>A	ENSP00000325527.5:n.7454-32G>A
ENST00000559133.5:c.2823-32G>A
NM_000138.4:c.7454-32G>A , LRG_778t1:c.7454-32G>A	NP_000129.3:n.7454-32G>A
NM_000138.5:c.7454-32G>A MANE Select	NP_000129.3:n.7454-32G>A