Canonical Allele Identifier: CA012342

Gene: FBN1

Linked Data

• ClinVar Variation Id: 180352
• ClinVar RCV Id: RCV000157225 ; RCV000256026 ; RCV000507510 ; RCV000589881 ; RCV000631935 ; RCV000763358 ; RCV003105802 ; RCV002313006
• dbSNP Id: rs730880099
• gnomAD v4: 15-48510125-G-A
• MyVariant Identifiers: chr15:g.48802322G>A (hg19) ; chr15:g.48510125G>A (hg38)
• PubMed: PMID:9338581 ; PMID:9399842 ; PMID:9401003 ; PMID:10464652 ; PMID:11068200 ; PMID:11700157 ; PMID:12446365 ; PMID:12938084 ; PMID:15054843 ; PMID:15241795 ; PMID:16971892 ; PMID:17418587 ; PMID:17657824 ; PMID:17679947 ; PMID:18079676 ; PMID:18087243 ; PMID:18615205 ; PMID:19159394 ; PMID:20564469 ; PMID:22772377 ; PMID:23719250 ; PMID:25053872 ; PMID:25944730

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48510125G>A , CM000677.2:g.48510125G>A	GRCh38
NC_000015.9:g.48802322G>A , CM000677.1:g.48802322G>A	GRCh37
NC_000015.8:g.46589614G>A	NCBI36
NG_008805.2:g.140664C>T , LRG_778:g.140664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1633C>T	ENSP00000453958.2:p.Arg545Cys
ENST00000674301.2:c.1633C>T	ENSP00000501333.2:p.Arg545Cys
ENST00000684448.1:n.307C>T
ENST00000316623.10:c.1633C>T MANE Select	ENSP00000325527.5:p.Arg545Cys
ENST00000316623.9:c.1633C>T	ENSP00000325527.5:p.Arg545Cys
ENST00000537463.6:c.636+27586C>T	ENSP00000440294.2:n.636+27586C>T
NM_000138.4:c.1633C>T , LRG_778t1:c.1633C>T	NP_000129.3:p.Arg545Cys
NM_000138.5:c.1633C>T MANE Select	NP_000129.3:p.Arg545Cys