Canonical Allele Identifier: CA013533

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42321
• ClinVar RCV Id: RCV000035155 ; RCV000148497 ; RCV000588311 ; RCV000528908 ; RCV000777744 ; RCV002277119
• dbSNP Id: rs140954477
• ExAC: 15:48782203 C / T
• gnomAD v2: 15-48782203-C-T
• gnomAD v3: 15-48490006-C-T
• gnomAD v4: 15-48490006-C-T
• COSMIC: COSM2190394
• MyVariant Identifiers: chr15:g.48782203C>T (hg19) ; chr15:g.48490006C>T (hg38)
• PubMed: PMID:17657824 ; PMID:21895641 ; PMID:24793577 ; PMID:24941995 ; PMID:25637381 ; PMID:25812041 ; PMID:25839328 ; PMID:25944730 ; PMID:27647783

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490006C>T , CM000677.2:g.48490006C>T	GRCh38
NC_000015.9:g.48782203C>T , CM000677.1:g.48782203C>T	GRCh37
NC_000015.8:g.46569495C>T	NCBI36
NG_008805.2:g.160783G>A , LRG_778:g.160783G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2927G>A	ENSP00000453958.2:p.Arg976His
ENST00000674301.2:c.2927G>A	ENSP00000501333.2:p.Arg976His
ENST00000684448.1:n.1601G>A
ENST00000316623.10:c.2927G>A MANE Select	ENSP00000325527.5:p.Arg976His
ENST00000316623.9:c.2927G>A	ENSP00000325527.5:p.Arg976His
ENST00000537463.6:c.637-15356G>A	ENSP00000440294.2:n.637-15356G>A
NM_000138.4:c.2927G>A , LRG_778t1:c.2927G>A	NP_000129.3:p.Arg976His
NM_000138.5:c.2927G>A MANE Select	NP_000129.3:p.Arg976His