Canonical Allele Identifier: CA392324313
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2927084
ClinVar RCV Id: RCV003781274

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485384T>A , CM000677.2:g.48485384T>A GRCh38
NC_000015.9:g.48777581T>A , CM000677.1:g.48777581T>A GRCh37
NC_000015.8:g.46564873T>A NCBI36
NG_008805.2:g.165405A>T , LRG_778:g.165405A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3702A>T ENSP00000453958.2:p.Arg1234Ser
ENST00000674301.2:c.3702A>T ENSP00000501333.2:p.Arg1234Ser
ENST00000684448.1:n.2376A>T
ENST00000316623.10:c.3702A>T MANE Select ENSP00000325527.5:p.Arg1234Ser
ENST00000316623.9:c.3702A>T ENSP00000325527.5:p.Arg1234Ser
ENST00000537463.6:c.637-10734A>T ENSP00000440294.2:n.637-10734A>T
NM_000138.4:c.3702A>T , LRG_778t1:c.3702A>T NP_000129.3:p.Arg1234Ser
NM_000138.5:c.3702A>T MANE Select NP_000129.3:p.Arg1234Ser