Canonical Allele Identifier: CA490118931

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703391A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411194A>G , CM000677.2:g.48411194A>G	GRCh38
NC_000015.9:g.48703391A>G , CM000677.1:g.48703391A>G	GRCh37
NC_000015.8:g.46490683A>G	NCBI36
NG_008805.2:g.239595T>C , LRG_778:g.239595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1220T>C	ENSP00000453958.2:n.*1220T>C
ENST00000674301.2:c.*1925T>C	ENSP00000501333.2:n.*1925T>C
ENST00000682158.1:n.1793T>C
ENST00000682170.1:n.2593T>C
ENST00000682767.1:n.1709T>C
ENST00000316623.10:c.8412T>C MANE Select	ENSP00000325527.5:p.Phe2804=
ENST00000674301.1:c.3578T>C	ENSP00000501333.1:n.3578T>C
ENST00000316623.9:c.8412T>C	ENSP00000325527.5:p.Phe2804=
ENST00000559133.5:c.3781T>C
NM_000138.4:c.8412T>C , LRG_778t1:c.8412T>C	NP_000129.3:p.Phe2804=
NM_000138.5:c.8412T>C MANE Select	NP_000129.3:p.Phe2804=