Canonical Allele Identifier: CA017803

Gene: FBN1

Linked Data

• ClinVar Variation Id: 155795
• ClinVar RCV Id: RCV000143895 ; RCV000627243 ; RCV002408641
• dbSNP Id: rs587782948
• COSMIC: COSM962359
• MyVariant Identifiers: chr15:g.48703282C>A (hg19) ; chr15:g.48411085C>A (hg38)
• PubMed: PMID:21907952

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411085C>A , CM000677.2:g.48411085C>A	GRCh38
NC_000015.9:g.48703282C>A , CM000677.1:g.48703282C>A	GRCh37
NC_000015.8:g.46490574C>A	NCBI36
NG_008805.2:g.239704G>T , LRG_778:g.239704G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1329G>T	ENSP00000453958.2:n.*1329G>T
ENST00000682158.1:n.1902G>T
ENST00000682170.1:n.2702G>T
ENST00000682767.1:n.1818G>T
ENST00000316623.10:c.8521G>T MANE Select	ENSP00000325527.5:p.Glu2841Ter
ENST00000316623.9:c.8521G>T	ENSP00000325527.5:p.Glu2841Ter
ENST00000559133.5:c.3890G>T
NM_000138.4:c.8521G>T , LRG_778t1:c.8521G>T	NP_000129.3:p.Glu2841Ter
NM_000138.5:c.8521G>T MANE Select	NP_000129.3:p.Glu2841Ter