Canonical Allele Identifier: CA012886

Gene: FBN1

Linked Data

• ClinVar Variation Id: 199993
• ClinVar RCV Id: RCV000181457 ; RCV001171255 ; RCV002277440 ; RCV002307435
• dbSNP Id: rs794728188
• gnomAD v4: 15-48497332-G-A
• COSMIC: COSM962401
• MyVariant Identifiers: chr15:g.48789529G>A (hg19) ; chr15:g.48497332G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48497332G>A , CM000677.2:g.48497332G>A	GRCh38
NC_000015.9:g.48789529G>A , CM000677.1:g.48789529G>A	GRCh37
NC_000015.8:g.46576821G>A	NCBI36
NG_008805.2:g.153457C>T , LRG_778:g.153457C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2227C>T	ENSP00000453958.2:p.Arg743Cys
ENST00000674301.2:c.2227C>T	ENSP00000501333.2:p.Arg743Cys
ENST00000684448.1:n.901C>T
ENST00000316623.10:c.2227C>T MANE Select	ENSP00000325527.5:p.Arg743Cys
ENST00000316623.9:c.2227C>T	ENSP00000325527.5:p.Arg743Cys
ENST00000537463.6:c.637-22682C>T	ENSP00000440294.2:n.637-22682C>T
NM_000138.4:c.2227C>T , LRG_778t1:c.2227C>T	NP_000129.3:p.Arg743Cys
NM_000138.5:c.2227C>T MANE Select	NP_000129.3:p.Arg743Cys