Canonical Allele Identifier: CA014498
Gene: FBN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16429
ClinVar RCV Id: RCV000017891
dbSNP Id: rs137854471

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483931C>T , CM000677.2:g.48483931C>T GRCh38
NC_000015.9:g.48776128C>T , CM000677.1:g.48776128C>T GRCh37
NC_000015.8:g.46563420C>T NCBI36
NG_008805.2:g.166858G>A , LRG_778:g.166858G>A

Transcript Alleles

HGVS Amino-acid change
NM_000138.4:c.3725G>A , LRG_778t1:c.3725G>A NP_000129.3:p.Cys1242Tyr
ENST00000316623.9:c.3725G>A ENSP00000325527.5:p.Cys1242Tyr
ENST00000537463.6:c.637-9281G>A ENSP00000440294.2:p.=