Canonical Allele Identifier: CA392330212

Gene: FBN1

Linked Data

• ClinVar Variation Id: 495582
• ClinVar RCV Id: RCV000589223 ; RCV000632026 ; RCV000756140 ; RCV001249314 ; RCV002438522 ; RCV004530637
• dbSNP Id: rs1555398835
• gnomAD v4: 15-48490073-G-A
• COSMIC: COSM1373268
• MyVariant Identifiers: chr15:g.48782270G>A (hg19) ; chr15:g.48490073G>A (hg38)
• PubMed: PMID:17657824 ; PMID:18615205 ; PMID:19002209 ; PMID:19012347 ; PMID:19293843 ; PMID:19328768 ; PMID:19839986 ; PMID:21332468 ; PMID:21883168 ; PMID:25907466

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490073G>A , CM000677.2:g.48490073G>A	GRCh38
NC_000015.9:g.48782270G>A , CM000677.1:g.48782270G>A	GRCh37
NC_000015.8:g.46569562G>A	NCBI36
NG_008805.2:g.160716C>T , LRG_778:g.160716C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2860C>T	ENSP00000453958.2:p.Arg954Cys
ENST00000674301.2:c.2860C>T	ENSP00000501333.2:p.Arg954Cys
ENST00000684448.1:n.1534C>T
ENST00000316623.10:c.2860C>T MANE Select	ENSP00000325527.5:p.Arg954Cys
ENST00000316623.9:c.2860C>T	ENSP00000325527.5:p.Arg954Cys
ENST00000537463.6:c.637-15423C>T	ENSP00000440294.2:n.637-15423C>T
NM_000138.4:c.2860C>T , LRG_778t1:c.2860C>T	NP_000129.3:p.Arg954Cys
NM_000138.5:c.2860C>T MANE Select	NP_000129.3:p.Arg954Cys