Canonical Allele Identifier: CA017349
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36118
dbSNP Id: rs147195031

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48420780G>A , CM000677.2:g.48420780G>A GRCh38
NC_000015.9:g.48712977G>A , CM000677.1:g.48712977G>A GRCh37
NC_000015.8:g.46500269G>A NCBI36
NG_008805.2:g.230009C>T , LRG_778:g.230009C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*534C>T ENSP00000453958.2:n.*534C>T
ENST00000674301.2:c.*1239C>T ENSP00000501333.2:n.*1239C>T
ENST00000682170.1:n.1907C>T
ENST00000682767.1:n.1023C>T
ENST00000316623.10:c.7726C>T MANE Select ENSP00000325527.5:p.Arg2576Cys
ENST00000674301.1:c.2892C>T ENSP00000501333.1:n.2892C>T
ENST00000316623.9:c.7726C>T ENSP00000325527.5:p.Arg2576Cys
ENST00000559133.5:c.3095C>T
NM_000138.4:c.7726C>T , LRG_778t1:c.7726C>T NP_000129.3:p.Arg2576Cys
NM_000138.5:c.7726C>T MANE Select NP_000129.3:p.Arg2576Cys