Canonical Allele Identifier: CA392322971

Gene: FBN1

Linked Data

• ClinVar Variation Id: 527194
• ClinVar RCV Id: RCV000631990
• dbSNP Id: rs1555393858
• MyVariant Identifiers: chr15:g.48707830A>G (hg19) ; chr15:g.48415633A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415633A>G , CM000677.2:g.48415633A>G	GRCh38
NC_000015.9:g.48707830A>G , CM000677.1:g.48707830A>G	GRCh37
NC_000015.8:g.46495122A>G	NCBI36
NG_008805.2:g.235156T>C , LRG_778:g.235156T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*762T>C	ENSP00000453958.2:n.*762T>C
ENST00000674301.2:c.*1467T>C	ENSP00000501333.2:n.*1467T>C
ENST00000682158.1:n.1335T>C
ENST00000682170.1:n.2135T>C
ENST00000682767.1:n.1251T>C
ENST00000316623.10:c.7954T>C MANE Select	ENSP00000325527.5:p.Cys2652Arg
ENST00000674301.1:c.3120T>C	ENSP00000501333.1:n.3120T>C
ENST00000316623.9:c.7954T>C	ENSP00000325527.5:p.Cys2652Arg
ENST00000559133.5:c.3323T>C
ENST00000561429.1:n.209T>C
NM_000138.4:c.7954T>C , LRG_778t1:c.7954T>C	NP_000129.3:p.Cys2652Arg
NM_000138.5:c.7954T>C MANE Select	NP_000129.3:p.Cys2652Arg