Canonical Allele Identifier: CA012607

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42295
• ClinVar RCV Id: RCV000035129 ; RCV000493952 ; RCV000697256 ; RCV003114211 ; RCV002313727 ; RCV002482953
• dbSNP Id: rs25403
• gnomAD v4: 15-48613073-G-A
• COSMIC: COSM6226847
• MyVariant Identifiers: chr15:g.48905270G>A (hg19) ; chr15:g.48613073G>A (hg38)
• PubMed: PMID:11826022 ; PMID:12203992 ; PMID:12938084 ; PMID:16765689 ; PMID:19293843 ; PMID:21895641 ; PMID:22772377 ; PMID:24161884 ; PMID:25944730 ; PMID:27611364

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48613073G>A , CM000677.2:g.48613073G>A	GRCh38
NC_000015.9:g.48905270G>A , CM000677.1:g.48905270G>A	GRCh37
NC_000015.8:g.46692562G>A	NCBI36
NG_008805.2:g.37716C>T , LRG_778:g.37716C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.184C>T	ENSP00000453958.2:p.Arg62Cys
ENST00000674301.2:c.184C>T	ENSP00000501333.2:p.Arg62Cys
ENST00000316623.10:c.184C>T MANE Select	ENSP00000325527.5:p.Arg62Cys
ENST00000316623.9:c.184C>T	ENSP00000325527.5:p.Arg62Cys
ENST00000537463.6:c.184C>T	ENSP00000440294.2:p.Arg62Cys
NM_000138.4:c.184C>T , LRG_778t1:c.184C>T	NP_000129.3:p.Arg62Cys
NM_000138.5:c.184C>T MANE Select	NP_000129.3:p.Arg62Cys