Canonical Allele Identifier: CA017296

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42429
• ClinVar RCV Id: RCV000035274 ; RCV000181609 ; RCV000586498 ; RCV002390140 ; RCV000698696
• dbSNP Id: rs397515854
• COSMIC: COSM1749180
• MyVariant Identifiers: chr15:g.48713848C>T (hg19) ; chr15:g.48421651C>T (hg38)
• PubMed: PMID:11748851 ; PMID:16220557 ; PMID:17627385 ; PMID:17657824 ; PMID:19012347 ; PMID:21895641 ; PMID:24793577 ; PMID:25907466

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421651C>T , CM000677.2:g.48421651C>T	GRCh38
NC_000015.9:g.48713848C>T , CM000677.1:g.48713848C>T	GRCh37
NC_000015.8:g.46501140C>T	NCBI36
NG_008805.2:g.229138G>A , LRG_778:g.229138G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*414G>A	ENSP00000453958.2:n.*414G>A
ENST00000674301.2:c.*1119G>A	ENSP00000501333.2:n.*1119G>A
ENST00000682170.1:n.1787G>A
ENST00000682767.1:n.903G>A
ENST00000316623.10:c.7606G>A MANE Select	ENSP00000325527.5:p.Gly2536Arg
ENST00000674301.1:c.2772G>A	ENSP00000501333.1:n.2772G>A
ENST00000316623.9:c.7606G>A	ENSP00000325527.5:p.Gly2536Arg
ENST00000559133.5:c.2975G>A
NM_000138.4:c.7606G>A , LRG_778t1:c.7606G>A	NP_000129.3:p.Gly2536Arg
NM_000138.5:c.7606G>A MANE Select	NP_000129.3:p.Gly2536Arg