Canonical Allele Identifier: CA2628325008

Gene: FBN1

Linked Data

• dbSNP Id: rs2141209306
• gnomAD v4: 15-48410913-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410913A>G , CM000677.2:g.48410913A>G	GRCh38
NC_000015.9:g.48703110A>G , CM000677.1:g.48703110A>G	GRCh37
NC_000015.8:g.46490402A>G	NCBI36
NG_008805.2:g.239876T>C , LRG_778:g.239876T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1501T>C	ENSP00000453958.2:n.*1501T>C
ENST00000682158.1:n.2074T>C
ENST00000682170.1:n.2874T>C
ENST00000682767.1:n.1990T>C
ENST00000316623.10:c.*77T>C MANE Select	ENSP00000325527.5:n.*77T>C
ENST00000316623.9:c.*77T>C	ENSP00000325527.5:n.*77T>C
ENST00000559133.5:c.4062T>C
NM_000138.4:c.*77T>C , LRG_778t1:c.*77T>C	NP_000129.3:n.*77T>C
NM_000138.5:c.*77T>C MANE Select	NP_000129.3:n.*77T>C