Canonical Allele Identifier: CA392322844

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519801
• ClinVar RCV Id: RCV000631898 ; RCV002246004 ; RCV002313283
• dbSNP Id: rs1555393844
• MyVariant Identifiers: chr15:g.48707807G>T (hg19) ; chr15:g.48415610G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415610G>T , CM000677.2:g.48415610G>T	GRCh38
NC_000015.9:g.48707807G>T , CM000677.1:g.48707807G>T	GRCh37
NC_000015.8:g.46495099G>T	NCBI36
NG_008805.2:g.235179C>A , LRG_778:g.235179C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*785C>A	ENSP00000453958.2:n.*785C>A
ENST00000674301.2:c.*1490C>A	ENSP00000501333.2:n.*1490C>A
ENST00000682158.1:n.1358C>A
ENST00000682170.1:n.2158C>A
ENST00000682767.1:n.1274C>A
ENST00000316623.10:c.7977C>A MANE Select	ENSP00000325527.5:p.Cys2659Ter
ENST00000674301.1:c.3143C>A	ENSP00000501333.1:n.3143C>A
ENST00000316623.9:c.7977C>A	ENSP00000325527.5:p.Cys2659Ter
ENST00000559133.5:c.3346C>A
ENST00000561429.1:n.232C>A
NM_000138.4:c.7977C>A , LRG_778t1:c.7977C>A	NP_000129.3:p.Cys2659Ter
NM_000138.5:c.7977C>A MANE Select	NP_000129.3:p.Cys2659Ter