Canonical Allele Identifier: CA017544
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 163461
dbSNP Id: rs200309328

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48412715G>A , CM000677.2:g.48412715G>A GRCh38
NC_000015.9:g.48704912G>A , CM000677.1:g.48704912G>A GRCh37
NC_000015.8:g.46492204G>A NCBI36
NG_008805.2:g.238074C>T , LRG_778:g.238074C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*888C>T ENSP00000453958.2:n.*888C>T
ENST00000674301.2:c.*1593C>T ENSP00000501333.2:n.*1593C>T
ENST00000682158.1:n.1461C>T
ENST00000682170.1:n.2261C>T
ENST00000682767.1:n.1377C>T
ENST00000316623.10:c.8080C>T MANE Select ENSP00000325527.5:p.Arg2694Ter
ENST00000674301.1:c.3246C>T ENSP00000501333.1:n.3246C>T
ENST00000316623.9:c.8080C>T ENSP00000325527.5:p.Arg2694Ter
ENST00000559133.5:c.3449C>T
ENST00000561429.1:n.335C>T
NM_000138.4:c.8080C>T , LRG_778t1:c.8080C>T NP_000129.3:p.Arg2694Ter
NM_000138.5:c.8080C>T MANE Select NP_000129.3:p.Arg2694Ter