Canonical Allele Identifier: CA2175509313

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483776G= , CM000677.2:g.48483776G=	GRCh38
NC_000015.9:g.48775973G= , CM000677.1:g.48775973G=	GRCh37
NC_000015.8:g.46563265G=	NCBI36
NG_008805.2:g.167013C= , LRG_778:g.167013C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3838+42C=	ENSP00000453958.2:n.3838+42C=
ENST00000674301.2:c.3838+42C=	ENSP00000501333.2:n.3838+42C=
ENST00000684448.1:n.2512+42C=
ENST00000316623.10:c.3838+42C= MANE Select	ENSP00000325527.5:n.3838+42C=
ENST00000316623.9:c.3838+42C=	ENSP00000325527.5:n.3838+42C=
ENST00000537463.6:c.637-9126C=	ENSP00000440294.2:n.637-9126C=
NM_000138.4:c.3838+42C= , LRG_778t1:c.3838+42C=	NP_000129.3:n.3838+42C=
NM_000138.5:c.3838+42C= MANE Select	NP_000129.3:n.3838+42C=