Canonical Allele Identifier: CA016122
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180357
dbSNP Id: rs730880104

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445432A>C , CM000677.2:g.48445432A>C GRCh38
NC_000015.9:g.48737629A>C , CM000677.1:g.48737629A>C GRCh37
NC_000015.8:g.46524921A>C NCBI36
NG_008805.2:g.205357T>G , LRG_778:g.205357T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5861T>G ENSP00000453958.2:p.Phe1954Cys
ENST00000674301.2:c.5861T>G ENSP00000501333.2:p.Phe1954Cys
ENST00000684448.1:n.4535T>G
ENST00000316623.10:c.5861T>G MANE Select ENSP00000325527.5:p.Phe1954Cys
ENST00000674301.1:c.860T>G ENSP00000501333.1:p.Phe287Cys
ENST00000316623.9:c.5861T>G ENSP00000325527.5:p.Phe1954Cys
ENST00000537463.6:c.*1624T>G ENSP00000440294.2:n.*1624T>G
ENST00000559133.5:c.1168T>G
NM_000138.4:c.5861T>G , LRG_778t1:c.5861T>G NP_000129.3:p.Phe1954Cys
NM_000138.5:c.5861T>G MANE Select NP_000129.3:p.Phe1954Cys