Canonical Allele Identifier: CA2628324904

Gene: FBN1

Linked Data

• gnomAD v4: 15-48410741-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410741A>G , CM000677.2:g.48410741A>G	GRCh38
NC_000015.9:g.48702938A>G , CM000677.1:g.48702938A>G	GRCh37
NC_000015.8:g.46490230A>G	NCBI36
NG_008805.2:g.240048T>C , LRG_778:g.240048T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1673T>C	ENSP00000453958.2:n.*1673T>C
ENST00000682158.1:n.2246T>C
ENST00000682170.1:n.3046T>C
ENST00000682767.1:n.2162T>C
ENST00000316623.10:c.*249T>C MANE Select	ENSP00000325527.5:n.*249T>C
ENST00000316623.9:c.*249T>C	ENSP00000325527.5:n.*249T>C
ENST00000559133.5:c.4234T>C
NM_000138.4:c.*249T>C , LRG_778t1:c.*249T>C	NP_000129.3:n.*249T>C
NM_000138.5:c.*249T>C MANE Select	NP_000129.3:n.*249T>C