Canonical Allele Identifier: CA392317576
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472574C>A , CM000677.2:g.48472574C>A GRCh38
NC_000015.9:g.48764771C>A , CM000677.1:g.48764771C>A GRCh37
NC_000015.8:g.46552063C>A NCBI36
NG_008805.2:g.178215G>T , LRG_778:g.178215G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4313G>T ENSP00000453958.2:p.Ser1438Ile
ENST00000674301.2:c.4313G>T ENSP00000501333.2:p.Ser1438Ile
ENST00000683268.1:n.280G>T
ENST00000684448.1:n.2987G>T
ENST00000316623.10:c.4313G>T MANE Select ENSP00000325527.5:p.Ser1438Ile
ENST00000316623.9:c.4313G>T ENSP00000325527.5:p.Ser1438Ile
ENST00000537463.6:c.*76G>T ENSP00000440294.2:n.*76G>T
NM_000138.4:c.4313G>T , LRG_778t1:c.4313G>T NP_000129.3:p.Ser1438Ile
NM_000138.5:c.4313G>T MANE Select NP_000129.3:p.Ser1438Ile