Canonical Allele Identifier: CA2175493947

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432863C= , CM000677.2:g.48432863C=	GRCh38
NC_000015.9:g.48725060C= , CM000677.1:g.48725060C=	GRCh37
NC_000015.8:g.46512352C=	NCBI36
NG_008805.2:g.217926G= , LRG_778:g.217926G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6739+3G=	ENSP00000453958.2:n.6739+3G=
ENST00000674301.2:c.*190+3G=	ENSP00000501333.2:n.*190+3G=
ENST00000682170.1:n.348+3G=
ENST00000316623.10:c.6739+3G= MANE Select	ENSP00000325527.5:n.6739+3G=
ENST00000674301.1:c.1843+3G=	ENSP00000501333.1:n.1843+3G=
ENST00000316623.9:c.6739+3G=	ENSP00000325527.5:n.6739+3G=
ENST00000537463.6:c.*2502+3G=	ENSP00000440294.2:n.*2502+3G=
ENST00000559133.5:c.2046+3G=
ENST00000560720.1:n.26+3G=
NM_000138.4:c.6739+3G= , LRG_778t1:c.6739+3G=	NP_000129.3:n.6739+3G=
NM_000138.5:c.6739+3G= MANE Select	NP_000129.3:n.6739+3G=