Canonical Allele Identifier: CA969578990

Gene: FBN1

Linked Data

• dbSNP Id: rs2042854615
• gnomAD v3: 15-48410826-G-A
• gnomAD v4: 15-48410826-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410826G>A , CM000677.2:g.48410826G>A	GRCh38
NC_000015.9:g.48703023G>A , CM000677.1:g.48703023G>A	GRCh37
NC_000015.8:g.46490315G>A	NCBI36
NG_008805.2:g.239963C>T , LRG_778:g.239963C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1588C>T	ENSP00000453958.2:n.*1588C>T
ENST00000682158.1:n.2161C>T
ENST00000682170.1:n.2961C>T
ENST00000682767.1:n.2077C>T
ENST00000316623.10:c.*164C>T MANE Select	ENSP00000325527.5:n.*164C>T
ENST00000316623.9:c.*164C>T	ENSP00000325527.5:n.*164C>T
ENST00000559133.5:c.4149C>T
NM_000138.4:c.*164C>T , LRG_778t1:c.*164C>T	NP_000129.3:n.*164C>T
NM_000138.5:c.*164C>T MANE Select	NP_000129.3:n.*164C>T