Canonical Allele Identifier: CA969578994

Gene: FBN1

Linked Data

• dbSNP Id: rs2042854725
• gnomAD v3: 15-48410837-C-G
• gnomAD v4: 15-48410837-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410837C>G , CM000677.2:g.48410837C>G	GRCh38
NC_000015.9:g.48703034C>G , CM000677.1:g.48703034C>G	GRCh37
NC_000015.8:g.46490326C>G	NCBI36
NG_008805.2:g.239952G>C , LRG_778:g.239952G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1577G>C	ENSP00000453958.2:n.*1577G>C
ENST00000682158.1:n.2150G>C
ENST00000682170.1:n.2950G>C
ENST00000682767.1:n.2066G>C
ENST00000316623.10:c.*153G>C MANE Select	ENSP00000325527.5:n.*153G>C
ENST00000316623.9:c.*153G>C	ENSP00000325527.5:n.*153G>C
ENST00000559133.5:c.4138G>C
NM_000138.4:c.*153G>C , LRG_778t1:c.*153G>C	NP_000129.3:n.*153G>C
NM_000138.5:c.*153G>C MANE Select	NP_000129.3:n.*153G>C