Canonical Allele Identifier: CA017692

Gene: FBN1

Linked Data

• ClinVar Variation Id: 16439
• ClinVar RCV Id: RCV000017901 ; RCV000181630 ; RCV000631918 ; RCV001374806 ; RCV002310993
• dbSNP Id: rs137854466
• gnomAD v2: 15-48703477-G-A
• gnomAD v3: 15-48411280-G-A
• gnomAD v4: 15-48411280-G-A
• COSMIC: COSM189580
• MyVariant Identifiers: chr15:g.48703477G>A (hg19) ; chr15:g.48411280G>A (hg38)
• ERepo: CA017692/MONDO:0007947/022
• PubMed: PMID:7911051 ; PMID:11826022 ; PMID:19293843

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411280G>A , CM000677.2:g.48411280G>A	GRCh38
NC_000015.9:g.48703477G>A , CM000677.1:g.48703477G>A	GRCh37
NC_000015.8:g.46490769G>A	NCBI36
NG_008805.2:g.239509C>T , LRG_778:g.239509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1134C>T	ENSP00000453958.2:n.*1134C>T
ENST00000674301.2:c.*1839C>T	ENSP00000501333.2:n.*1839C>T
ENST00000682158.1:n.1707C>T
ENST00000682170.1:n.2507C>T
ENST00000682767.1:n.1623C>T
ENST00000316623.10:c.8326C>T MANE Select	ENSP00000325527.5:p.Arg2776Ter
ENST00000674301.1:c.3492C>T	ENSP00000501333.1:n.3492C>T
ENST00000316623.9:c.8326C>T	ENSP00000325527.5:p.Arg2776Ter
ENST00000559133.5:c.3695C>T
ENST00000561429.1:n.581C>T
NM_000138.4:c.8326C>T , LRG_778t1:c.8326C>T	NP_000129.3:p.Arg2776Ter
NM_000138.5:c.8326C>T MANE Select	NP_000129.3:p.Arg2776Ter