Canonical Allele Identifier: CA014760

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200036
• ClinVar RCV Id: RCV000181508 ; RCV000663695 ; RCV000588449 ; RCV000770671 ; RCV001224814
• dbSNP Id: rs763449629
• gnomAD v4: 15-48474369-C-T
• COSMIC: COSM3782884
• MyVariant Identifiers: chr15:g.48766566C>T (hg19) ; chr15:g.48474369C>T (hg38)
• PubMed: PMID:14695540 ; PMID:16342915 ; PMID:17657824 ; PMID:21895641 ; PMID:24199744 ; PMID:25907466

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474369C>T , CM000677.2:g.48474369C>T	GRCh38
NC_000015.9:g.48766566C>T , CM000677.1:g.48766566C>T	GRCh37
NC_000015.8:g.46553858C>T	NCBI36
NG_008805.2:g.176420G>A , LRG_778:g.176420G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4096G>A	ENSP00000453958.2:p.Glu1366Lys
ENST00000674301.2:c.4096G>A	ENSP00000501333.2:p.Glu1366Lys
ENST00000684448.1:n.2770G>A
ENST00000316623.10:c.4096G>A MANE Select	ENSP00000325527.5:p.Glu1366Lys
ENST00000316623.9:c.4096G>A	ENSP00000325527.5:p.Glu1366Lys
ENST00000537463.6:c.768G>A	ENSP00000440294.2:p.Thr256=
NM_000138.4:c.4096G>A , LRG_778t1:c.4096G>A	NP_000129.3:p.Glu1366Lys
NM_000138.5:c.4096G>A MANE Select	NP_000129.3:p.Glu1366Lys