Canonical Allele Identifier: CA16607819
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392998
ClinVar RCV Id: RCV000420981
dbSNP Id: rs1057524735

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48644710G>T , CM000677.2:g.48644710G>T GRCh38
NC_000015.9:g.48936907G>T , CM000677.1:g.48936907G>T GRCh37
NC_000015.8:g.46724199G>T NCBI36
NG_008805.2:g.6079C>A , LRG_778:g.6079C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.60C>A ENSP00000453958.2:p.Tyr20Ter
ENST00000674301.2:c.60C>A ENSP00000501333.2:p.Tyr20Ter
ENST00000316623.10:c.60C>A MANE Select ENSP00000325527.5:p.Tyr20Ter
ENST00000316623.9:c.60C>A ENSP00000325527.5:p.Tyr20Ter
ENST00000537463.6:c.60C>A ENSP00000440294.2:p.Tyr20Ter
ENST00000558230.1:n.123C>A
ENST00000560355.1:c.60C>A ENSP00000453901.1:p.Tyr20Ter
NM_000138.4:c.60C>A , LRG_778t1:c.60C>A NP_000129.3:p.Tyr20Ter
NM_000138.5:c.60C>A MANE Select NP_000129.3:p.Tyr20Ter