Canonical Allele Identifier: CA392345814

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48456643A>G , CM000677.2:g.48456643A>G	GRCh38
NC_000015.9:g.48748840A>G , CM000677.1:g.48748840A>G	GRCh37
NC_000015.8:g.46536132A>G	NCBI36
NG_008805.2:g.194146T>C , LRG_778:g.194146T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5416T>C MANE Select	NP_000129.3:p.Cys1806Arg
ENST00000316623.10:c.5416T>C MANE Select	ENSP00000325527.5:p.Cys1806Arg
NM_000138.4:c.5416T>C , LRG_778t1:c.5416T>C	NP_000129.3:p.Cys1806Arg
ENST00000316623.9:c.5416T>C	ENSP00000325527.5:p.Cys1806Arg
ENST00000537463.6:c.*1179T>C	ENSP00000440294.2:n.*1179T>C
ENST00000559133.5:c.723T>C
ENST00000559133.6:c.5416T>C	ENSP00000453958.2:p.Cys1806Arg
ENST00000674301.1:c.415T>C	ENSP00000501333.1:p.Cys139Arg
ENST00000674301.2:c.5416T>C	ENSP00000501333.2:p.Cys1806Arg
ENST00000684448.1:n.4090T>C