Canonical Allele Identifier: CA013513

Gene: FBN1

Linked Data

• ClinVar Variation Id: 39667
• ClinVar RCV Id: RCV000032871 ; RCV000172857 ; RCV000548224 ; RCV000726909 ; RCV001186221 ; RCV001192805
• dbSNP Id: rs397514558
• gnomAD v3: 15-48490013-G-A
• gnomAD v4: 15-48490013-G-A
• MyVariant Identifiers: chr15:g.48782210G>A (hg19) ; chr15:g.48490013G>A (hg38)
• PubMed: PMID:17627385 ; PMID:17657824 ; PMID:19293843 ; PMID:22539873 ; PMID:25053872 ; PMID:28941062

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490013G>A , CM000677.2:g.48490013G>A	GRCh38
NC_000015.9:g.48782210G>A , CM000677.1:g.48782210G>A	GRCh37
NC_000015.8:g.46569502G>A	NCBI36
NG_008805.2:g.160776C>T , LRG_778:g.160776C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2920C>T	ENSP00000453958.2:p.Arg974Cys
ENST00000674301.2:c.2920C>T	ENSP00000501333.2:p.Arg974Cys
ENST00000684448.1:n.1594C>T
ENST00000316623.10:c.2920C>T MANE Select	ENSP00000325527.5:p.Arg974Cys
ENST00000316623.9:c.2920C>T	ENSP00000325527.5:p.Arg974Cys
ENST00000537463.6:c.637-15363C>T	ENSP00000440294.2:n.637-15363C>T
NM_000138.4:c.2920C>T , LRG_778t1:c.2920C>T	NP_000129.3:p.Arg974Cys
NM_000138.5:c.2920C>T MANE Select	NP_000129.3:p.Arg974Cys