Canonical Allele Identifier: CA017404

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200199
• ClinVar RCV Id: RCV000181706 ; RCV001206976 ; RCV002408788
• dbSNP Id: rs794728337
• MyVariant Identifiers: chr15:g.48707952C>T (hg19) ; chr15:g.48415755C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415755C>T , CM000677.2:g.48415755C>T	GRCh38
NC_000015.9:g.48707952C>T , CM000677.1:g.48707952C>T	GRCh37
NC_000015.8:g.46495244C>T	NCBI36
NG_008805.2:g.235034G>A , LRG_778:g.235034G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*640G>A	ENSP00000453958.2:n.*640G>A
ENST00000674301.2:c.*1345G>A	ENSP00000501333.2:n.*1345G>A
ENST00000682158.1:n.1213G>A
ENST00000682170.1:n.2013G>A
ENST00000682767.1:n.1129G>A
ENST00000316623.10:c.7832G>A MANE Select	ENSP00000325527.5:p.Cys2611Tyr
ENST00000674301.1:c.2998G>A	ENSP00000501333.1:n.2998G>A
ENST00000316623.9:c.7832G>A	ENSP00000325527.5:p.Cys2611Tyr
ENST00000559133.5:c.3201G>A
ENST00000561429.1:n.87G>A
NM_000138.4:c.7832G>A , LRG_778t1:c.7832G>A	NP_000129.3:p.Cys2611Tyr
NM_000138.5:c.7832G>A MANE Select	NP_000129.3:p.Cys2611Tyr