Canonical Allele Identifier: CA392325100

Gene: FBN1

Linked Data

• ClinVar Variation Id: 843462
• ClinVar RCV Id: RCV001046098
• dbSNP Id: rs113334360
• MyVariant Identifiers: chr15:g.48713799C>A (hg19) ; chr15:g.48421602C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421602C>A , CM000677.2:g.48421602C>A	GRCh38
NC_000015.9:g.48713799C>A , CM000677.1:g.48713799C>A	GRCh37
NC_000015.8:g.46501091C>A	NCBI36
NG_008805.2:g.229187G>T , LRG_778:g.229187G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*463G>T	ENSP00000453958.2:n.*463G>T
ENST00000674301.2:c.*1168G>T	ENSP00000501333.2:n.*1168G>T
ENST00000682170.1:n.1836G>T
ENST00000682767.1:n.952G>T
ENST00000316623.10:c.7655G>T MANE Select	ENSP00000325527.5:p.Cys2552Phe
ENST00000674301.1:c.2821G>T	ENSP00000501333.1:n.2821G>T
ENST00000316623.9:c.7655G>T	ENSP00000325527.5:p.Cys2552Phe
ENST00000559133.5:c.3024G>T
NM_000138.4:c.7655G>T , LRG_778t1:c.7655G>T	NP_000129.3:p.Cys2552Phe
NM_000138.5:c.7655G>T MANE Select	NP_000129.3:p.Cys2552Phe