Canonical Allele Identifier: CA017671

Gene: FBN1

Linked Data

• ClinVar Variation Id: 16424
• ClinVar RCV Id: RCV000017886 ; RCV001851898
• dbSNP Id: rs267606796
• MyVariant Identifiers: chr15:g.48703535C>T (hg19) ; chr15:g.48411338C>T (hg38)
• PubMed: PMID:1631074

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411338C>T , CM000677.2:g.48411338C>T	GRCh38
NC_000015.9:g.48703535C>T , CM000677.1:g.48703535C>T	GRCh37
NC_000015.8:g.46490827C>T	NCBI36
NG_008805.2:g.239451G>A , LRG_778:g.239451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1076G>A	ENSP00000453958.2:n.*1076G>A
ENST00000674301.2:c.*1781G>A	ENSP00000501333.2:n.*1781G>A
ENST00000682158.1:n.1649G>A
ENST00000682170.1:n.2449G>A
ENST00000682767.1:n.1565G>A
ENST00000316623.10:c.8268G>A MANE Select	ENSP00000325527.5:p.Trp2756Ter
ENST00000674301.1:c.3434G>A	ENSP00000501333.1:n.3434G>A
ENST00000316623.9:c.8268G>A	ENSP00000325527.5:p.Trp2756Ter
ENST00000559133.5:c.3637G>A
ENST00000561429.1:n.523G>A
NM_000138.4:c.8268G>A , LRG_778t1:c.8268G>A	NP_000129.3:p.Trp2756Ter
NM_000138.5:c.8268G>A MANE Select	NP_000129.3:p.Trp2756Ter