Canonical Allele Identifier: CA392319153

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411196A>G , CM000677.2:g.48411196A>G	GRCh38
NC_000015.9:g.48703393A>G , CM000677.1:g.48703393A>G	GRCh37
NC_000015.8:g.46490685A>G	NCBI36
NG_008805.2:g.239593T>C , LRG_778:g.239593T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1218T>C	ENSP00000453958.2:n.*1218T>C
ENST00000674301.2:c.*1923T>C	ENSP00000501333.2:n.*1923T>C
ENST00000682158.1:n.1791T>C
ENST00000682170.1:n.2591T>C
ENST00000682767.1:n.1707T>C
ENST00000316623.10:c.8410T>C MANE Select	ENSP00000325527.5:p.Phe2804Leu
ENST00000674301.1:c.3576T>C	ENSP00000501333.1:n.3576T>C
ENST00000316623.9:c.8410T>C	ENSP00000325527.5:p.Phe2804Leu
ENST00000559133.5:c.3779T>C
NM_000138.4:c.8410T>C , LRG_778t1:c.8410T>C	NP_000129.3:p.Phe2804Leu
NM_000138.5:c.8410T>C MANE Select	NP_000129.3:p.Phe2804Leu