Canonical Allele Identifier: CA2804070140

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434380G>T , CM000677.2:g.48434380G>T	GRCh38
NC_000015.9:g.48726577G>T , CM000677.1:g.48726577G>T	GRCh37
NC_000015.8:g.46513869G>T	NCBI36
NG_008805.2:g.216409C>A , LRG_778:g.216409C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+214C>A	ENSP00000453958.2:n.6616+214C>A
ENST00000674301.2:c.6617-168C>A	ENSP00000501333.2:n.6617-168C>A
ENST00000682170.1:n.225+214C>A
ENST00000316623.10:c.6616+214C>A MANE Select	ENSP00000325527.5:n.6616+214C>A
ENST00000674301.1:c.1616-168C>A	ENSP00000501333.1:n.1616-168C>A
ENST00000316623.9:c.6616+214C>A	ENSP00000325527.5:n.6616+214C>A
ENST00000537463.6:c.*2379+214C>A	ENSP00000440294.2:n.*2379+214C>A
ENST00000559133.5:c.1923+214C>A
NM_000138.4:c.6616+214C>A , LRG_778t1:c.6616+214C>A	NP_000129.3:n.6616+214C>A
NM_000138.5:c.6616+214C>A MANE Select	NP_000129.3:n.6616+214C>A