Canonical Allele Identifier: CA269519052
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549439
dbSNP Id: rs111856492

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48415695C>A , CM000677.2:g.48415695C>A GRCh38
NC_000015.9:g.48707892C>A , CM000677.1:g.48707892C>A GRCh37
NC_000015.8:g.46495184C>A NCBI36
NG_008805.2:g.235094G>T , LRG_778:g.235094G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*700G>T ENSP00000453958.2:n.*700G>T
ENST00000674301.2:c.*1405G>T ENSP00000501333.2:n.*1405G>T
ENST00000682158.1:n.1273G>T
ENST00000682170.1:n.2073G>T
ENST00000682767.1:n.1189G>T
ENST00000316623.10:c.7892G>T MANE Select ENSP00000325527.5:p.Cys2631Phe
ENST00000674301.1:c.3058G>T ENSP00000501333.1:n.3058G>T
ENST00000316623.9:c.7892G>T ENSP00000325527.5:p.Cys2631Phe
ENST00000559133.5:c.3261G>T
ENST00000561429.1:n.147G>T
NM_000138.4:c.7892G>T , LRG_778t1:c.7892G>T NP_000129.3:p.Cys2631Phe
NM_000138.5:c.7892G>T MANE Select NP_000129.3:p.Cys2631Phe