Canonical Allele Identifier: CA392321616
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48412729C>A , CM000677.2:g.48412729C>A GRCh38
NC_000015.9:g.48704926C>A , CM000677.1:g.48704926C>A GRCh37
NC_000015.8:g.46492218C>A NCBI36
NG_008805.2:g.238060G>T , LRG_778:g.238060G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*874G>T ENSP00000453958.2:n.*874G>T
ENST00000674301.2:c.*1579G>T ENSP00000501333.2:n.*1579G>T
ENST00000682158.1:n.1447G>T
ENST00000682170.1:n.2247G>T
ENST00000682767.1:n.1363G>T
ENST00000316623.10:c.8066G>T MANE Select ENSP00000325527.5:p.Gly2689Val
ENST00000674301.1:c.3232G>T ENSP00000501333.1:n.3232G>T
ENST00000316623.9:c.8066G>T ENSP00000325527.5:p.Gly2689Val
ENST00000559133.5:c.3435G>T
ENST00000561429.1:n.321G>T
NM_000138.4:c.8066G>T , LRG_778t1:c.8066G>T NP_000129.3:p.Gly2689Val
NM_000138.5:c.8066G>T MANE Select NP_000129.3:p.Gly2689Val