Canonical Allele Identifier: CA057979

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427596T>C , CM000677.2:g.48427596T>C	GRCh38
NC_000015.9:g.48719793T>C , CM000677.1:g.48719793T>C	GRCh37
NC_000015.8:g.46507085T>C	NCBI36
NG_008805.2:g.223193A>G , LRG_778:g.223193A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7175A>G MANE Select	NP_000129.3:p.His2392Arg
ENST00000316623.10:c.7175A>G MANE Select	ENSP00000325527.5:p.His2392Arg
NM_000138.4:c.7175A>G , LRG_778t1:c.7175A>G	NP_000129.3:p.His2392Arg
ENST00000316623.9:c.7175A>G	ENSP00000325527.5:p.His2392Arg
ENST00000559133.5:c.2544A>G
ENST00000559133.6:c.7237A>G	ENSP00000453958.2:p.Met2413Val
ENST00000674301.1:c.2341A>G	ENSP00000501333.1:n.2341A>G
ENST00000674301.2:c.*688A>G	ENSP00000501333.2:n.*688A>G
ENST00000682170.1:n.1356A>G
ENST00000682767.1:n.472A>G