Canonical Allele Identifier: CA392326808
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1172046
ClinVar RCV Id: RCV001525647
dbSNP Id: rs2141293800

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48487432C>T , CM000677.2:g.48487432C>T GRCh38
NC_000015.9:g.48779629C>T , CM000677.1:g.48779629C>T GRCh37
NC_000015.8:g.46566921C>T NCBI36
NG_008805.2:g.163357G>A , LRG_778:g.163357G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3343G>A ENSP00000453958.2:p.Asp1115Asn
ENST00000674301.2:c.3343G>A ENSP00000501333.2:p.Asp1115Asn
ENST00000684448.1:n.2017G>A
ENST00000316623.10:c.3343G>A MANE Select ENSP00000325527.5:p.Asp1115Asn
ENST00000316623.9:c.3343G>A ENSP00000325527.5:p.Asp1115Asn
ENST00000537463.6:c.637-12782G>A ENSP00000440294.2:n.637-12782G>A
NM_000138.4:c.3343G>A , LRG_778t1:c.3343G>A NP_000129.3:p.Asp1115Asn
NM_000138.5:c.3343G>A MANE Select NP_000129.3:p.Asp1115Asn