Canonical Allele Identifier: CA1139663884

Gene: FBN1

Linked Data

• ClinVar Variation Id: 885309
• ClinVar RCV Id: RCV001116824 ; RCV001116825 ; RCV001116826 ; RCV001118276 ; RCV001118275 ; RCV001118277
• dbSNP Id: rs1597506366
• gnomAD v3: 15-48410755-A-G
• gnomAD v4: 15-48410755-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410755A>G , CM000677.2:g.48410755A>G	GRCh38
NC_000015.9:g.48702952A>G , CM000677.1:g.48702952A>G	GRCh37
NC_000015.8:g.46490244A>G	NCBI36
NG_008805.2:g.240034T>C , LRG_778:g.240034T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1659T>C	ENSP00000453958.2:n.*1659T>C
ENST00000682158.1:n.2232T>C
ENST00000682170.1:n.3032T>C
ENST00000682767.1:n.2148T>C
ENST00000316623.10:c.*235T>C MANE Select	ENSP00000325527.5:n.*235T>C
ENST00000316623.9:c.*235T>C	ENSP00000325527.5:n.*235T>C
ENST00000559133.5:c.4220T>C
NM_000138.4:c.*235T>C , LRG_778t1:c.*235T>C	NP_000129.3:n.*235T>C
NM_000138.5:c.*235T>C MANE Select	NP_000129.3:n.*235T>C