Canonical Allele Identifier: CA2628324765

Gene: FBN1

Linked Data

• gnomAD v4: 15-48410597-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410597C>A , CM000677.2:g.48410597C>A	GRCh38
NC_000015.9:g.48702794C>A , CM000677.1:g.48702794C>A	GRCh37
NC_000015.8:g.46490086C>A	NCBI36
NG_008805.2:g.240192G>T , LRG_778:g.240192G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1817G>T	ENSP00000453958.2:n.*1817G>T
ENST00000682158.1:n.2390G>T
ENST00000682170.1:n.3190G>T
ENST00000682767.1:n.2306G>T
ENST00000316623.10:c.*393G>T MANE Select	ENSP00000325527.5:n.*393G>T
ENST00000316623.9:c.*393G>T	ENSP00000325527.5:n.*393G>T
ENST00000559133.5:c.4378G>T
NM_000138.4:c.*393G>T , LRG_778t1:c.*393G>T	NP_000129.3:n.*393G>T
NM_000138.5:c.*393G>T MANE Select	NP_000129.3:n.*393G>T