Canonical Allele Identifier: CA392324177
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483931C>A , CM000677.2:g.48483931C>A GRCh38
NC_000015.9:g.48776128C>A , CM000677.1:g.48776128C>A GRCh37
NC_000015.8:g.46563420C>A NCBI36
NG_008805.2:g.166858G>T , LRG_778:g.166858G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3725G>T ENSP00000453958.2:p.Cys1242Phe
ENST00000674301.2:c.3725G>T ENSP00000501333.2:p.Cys1242Phe
ENST00000684448.1:n.2399G>T
ENST00000316623.10:c.3725G>T MANE Select ENSP00000325527.5:p.Cys1242Phe
ENST00000316623.9:c.3725G>T ENSP00000325527.5:p.Cys1242Phe
ENST00000537463.6:c.637-9281G>T ENSP00000440294.2:n.637-9281G>T
NM_000138.4:c.3725G>T , LRG_778t1:c.3725G>T NP_000129.3:p.Cys1242Phe
NM_000138.5:c.3725G>T MANE Select NP_000129.3:p.Cys1242Phe