Canonical Allele Identifier: CA055122
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519783
dbSNP Id: rs765387131

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48452589G>A , CM000677.2:g.48452589G>A GRCh38
NC_000015.9:g.48744786G>A , CM000677.1:g.48744786G>A GRCh37
NC_000015.8:g.46532078G>A NCBI36
NG_008805.2:g.198200C>T , LRG_778:g.198200C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5518C>T ENSP00000453958.2:p.Arg1840Cys
ENST00000674301.2:c.5518C>T ENSP00000501333.2:p.Arg1840Cys
ENST00000684448.1:n.4192C>T
ENST00000316623.10:c.5518C>T MANE Select ENSP00000325527.5:p.Arg1840Cys
ENST00000674301.1:c.517C>T ENSP00000501333.1:p.Arg173Cys
ENST00000316623.9:c.5518C>T ENSP00000325527.5:p.Arg1840Cys
ENST00000537463.6:c.*1281C>T ENSP00000440294.2:n.*1281C>T
ENST00000559133.5:c.825C>T
NM_000138.4:c.5518C>T , LRG_778t1:c.5518C>T NP_000129.3:p.Arg1840Cys
NM_000138.5:c.5518C>T MANE Select NP_000129.3:p.Arg1840Cys