Canonical Allele Identifier: CA017505

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200125
• ClinVar RCV Id: RCV000181623 ; RCV000553667 ; RCV002314685
• dbSNP Id: rs794728281
• MyVariant Identifiers: chr15:g.48707779C>A (hg19) ; chr15:g.48415582C>A (hg38)
• PubMed: PMID:15161917 ; PMID:19293843 ; PMID:25652356

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415582C>A , CM000677.2:g.48415582C>A	GRCh38
NC_000015.9:g.48707779C>A , CM000677.1:g.48707779C>A	GRCh37
NC_000015.8:g.46495071C>A	NCBI36
NG_008805.2:g.235207G>T , LRG_778:g.235207G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*813G>T	ENSP00000453958.2:n.*813G>T
ENST00000674301.2:c.*1518G>T	ENSP00000501333.2:n.*1518G>T
ENST00000682158.1:n.1386G>T
ENST00000682170.1:n.2186G>T
ENST00000682767.1:n.1302G>T
ENST00000316623.10:c.8005G>T MANE Select	ENSP00000325527.5:p.Gly2669Cys
ENST00000674301.1:c.3171G>T	ENSP00000501333.1:n.3171G>T
ENST00000316623.9:c.8005G>T	ENSP00000325527.5:p.Gly2669Cys
ENST00000559133.5:c.3374G>T
ENST00000561429.1:n.260G>T
NM_000138.4:c.8005G>T , LRG_778t1:c.8005G>T	NP_000129.3:p.Gly2669Cys
NM_000138.5:c.8005G>T MANE Select	NP_000129.3:p.Gly2669Cys