Canonical Allele Identifier: CA2628324930

Gene: FBN1

Linked Data

• gnomAD v4: 15-48410784-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410784C>A , CM000677.2:g.48410784C>A	GRCh38
NC_000015.9:g.48702981C>A , CM000677.1:g.48702981C>A	GRCh37
NC_000015.8:g.46490273C>A	NCBI36
NG_008805.2:g.240005G>T , LRG_778:g.240005G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1630G>T	ENSP00000453958.2:n.*1630G>T
ENST00000682158.1:n.2203G>T
ENST00000682170.1:n.3003G>T
ENST00000682767.1:n.2119G>T
ENST00000316623.10:c.*206G>T MANE Select	ENSP00000325527.5:n.*206G>T
ENST00000316623.9:c.*206G>T	ENSP00000325527.5:n.*206G>T
ENST00000559133.5:c.4191G>T
NM_000138.4:c.*206G>T , LRG_778t1:c.*206G>T	NP_000129.3:n.*206G>T
NM_000138.5:c.*206G>T MANE Select	NP_000129.3:n.*206G>T