Canonical Allele Identifier: CA490014813

Gene: FBN1

Linked Data

• dbSNP Id: rs1350972393
• MyVariant Identifiers: chr15:g.48704940C>A (hg19) ; chr15:g.48412743C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412743C>A , CM000677.2:g.48412743C>A	GRCh38
NC_000015.9:g.48704940C>A , CM000677.1:g.48704940C>A	GRCh37
NC_000015.8:g.46492232C>A	NCBI36
NG_008805.2:g.238046G>T , LRG_778:g.238046G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860G>T	ENSP00000453958.2:n.*860G>T
ENST00000674301.2:c.*1565G>T	ENSP00000501333.2:n.*1565G>T
ENST00000682158.1:n.1433G>T
ENST00000682170.1:n.2233G>T
ENST00000682767.1:n.1349G>T
ENST00000316623.10:c.8052G>T MANE Select	ENSP00000325527.5:p.Gly2684=
ENST00000674301.1:c.3218G>T	ENSP00000501333.1:n.3218G>T
ENST00000316623.9:c.8052G>T	ENSP00000325527.5:p.Gly2684=
ENST00000559133.5:c.3421G>T
ENST00000561429.1:n.307G>T
NM_000138.4:c.8052G>T , LRG_778t1:c.8052G>T	NP_000129.3:p.Gly2684=
NM_000138.5:c.8052G>T MANE Select	NP_000129.3:p.Gly2684=