Canonical Allele Identifier: CA392322780

Gene: FBN1

Linked Data

• ClinVar Variation Id: 576623
• ClinVar RCV Id: RCV000699162
• dbSNP Id: rs1566889870
• MyVariant Identifiers: chr15:g.48707797A>G (hg19) ; chr15:g.48415600A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415600A>G , CM000677.2:g.48415600A>G	GRCh38
NC_000015.9:g.48707797A>G , CM000677.1:g.48707797A>G	GRCh37
NC_000015.8:g.46495089A>G	NCBI36
NG_008805.2:g.235189T>C , LRG_778:g.235189T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*795T>C	ENSP00000453958.2:n.*795T>C
ENST00000674301.2:c.*1500T>C	ENSP00000501333.2:n.*1500T>C
ENST00000682158.1:n.1368T>C
ENST00000682170.1:n.2168T>C
ENST00000682767.1:n.1284T>C
ENST00000316623.10:c.7987T>C MANE Select	ENSP00000325527.5:p.Cys2663Arg
ENST00000674301.1:c.3153T>C	ENSP00000501333.1:n.3153T>C
ENST00000316623.9:c.7987T>C	ENSP00000325527.5:p.Cys2663Arg
ENST00000559133.5:c.3356T>C
ENST00000561429.1:n.242T>C
NM_000138.4:c.7987T>C , LRG_778t1:c.7987T>C	NP_000129.3:p.Cys2663Arg
NM_000138.5:c.7987T>C MANE Select	NP_000129.3:p.Cys2663Arg