Canonical Allele Identifier: CA392328826

Gene: FBN1

Linked Data

• ClinVar Variation Id: 429595
• ClinVar RCV Id: RCV000492809 ; RCV000663939 ; RCV001851355
• dbSNP Id: rs1131691479
• MyVariant Identifiers: chr15:g.48718049C>T (hg19) ; chr15:g.48425852C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425852C>T , CM000677.2:g.48425852C>T	GRCh38
NC_000015.9:g.48718049C>T , CM000677.1:g.48718049C>T	GRCh37
NC_000015.8:g.46505341C>T	NCBI36
NG_008805.2:g.224937G>A , LRG_778:g.224937G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*25G>A	ENSP00000453958.2:n.*25G>A
ENST00000674301.2:c.*730G>A	ENSP00000501333.2:n.*730G>A
ENST00000682170.1:n.1398G>A
ENST00000682767.1:n.514G>A
ENST00000316623.10:c.7217G>A MANE Select	ENSP00000325527.5:p.Cys2406Tyr
ENST00000674301.1:c.2383G>A	ENSP00000501333.1:n.2383G>A
ENST00000316623.9:c.7217G>A	ENSP00000325527.5:p.Cys2406Tyr
ENST00000559133.5:c.2586G>A
NM_000138.4:c.7217G>A , LRG_778t1:c.7217G>A	NP_000129.3:p.Cys2406Tyr
NM_000138.5:c.7217G>A MANE Select	NP_000129.3:p.Cys2406Tyr