Canonical Allele Identifier: CA269519926

Gene: FBN1

Linked Data

• ClinVar Variation Id: 504529
• ClinVar RCV Id: RCV000611583 ; RCV002498882
• dbSNP Id: rs363810
• MyVariant Identifiers: chr15:g.48714221A>T (hg19) ; chr15:g.48422024A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422024A>T , CM000677.2:g.48422024A>T	GRCh38
NC_000015.9:g.48714221A>T , CM000677.1:g.48714221A>T	GRCh37
NC_000015.8:g.46501513A>T	NCBI36
NG_008805.2:g.228765T>A , LRG_778:g.228765T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*306T>A	ENSP00000453958.2:n.*306T>A
ENST00000674301.2:c.*1011T>A	ENSP00000501333.2:n.*1011T>A
ENST00000682170.1:n.1679T>A
ENST00000682767.1:n.795T>A
ENST00000316623.10:c.7498T>A MANE Select	ENSP00000325527.5:p.Cys2500Ser
ENST00000674301.1:c.2664T>A	ENSP00000501333.1:n.2664T>A
ENST00000316623.9:c.7498T>A	ENSP00000325527.5:p.Cys2500Ser
ENST00000559133.5:c.2867T>A
NM_000138.4:c.7498T>A , LRG_778t1:c.7498T>A	NP_000129.3:p.Cys2500Ser
NM_000138.5:c.7498T>A MANE Select	NP_000129.3:p.Cys2500Ser