Canonical Allele Identifier: CA012342
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180352
dbSNP Id: rs730880099

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48510125G>A , CM000677.2:g.48510125G>A GRCh38
NC_000015.9:g.48802322G>A , CM000677.1:g.48802322G>A GRCh37
NC_000015.8:g.46589614G>A NCBI36
NG_008805.2:g.140664C>T , LRG_778:g.140664C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1633C>T ENSP00000453958.2:p.Arg545Cys
ENST00000674301.2:c.1633C>T ENSP00000501333.2:p.Arg545Cys
ENST00000684448.1:n.307C>T
ENST00000316623.10:c.1633C>T MANE Select ENSP00000325527.5:p.Arg545Cys
ENST00000316623.9:c.1633C>T ENSP00000325527.5:p.Arg545Cys
ENST00000537463.6:c.636+27586C>T ENSP00000440294.2:n.636+27586C>T
NM_000138.4:c.1633C>T , LRG_778t1:c.1633C>T NP_000129.3:p.Arg545Cys
NM_000138.5:c.1633C>T MANE Select NP_000129.3:p.Arg545Cys