Canonical Allele Identifier: CA392341016

Gene: FBN1

Linked Data

• ClinVar Variation Id: 439719
• ClinVar RCV Id: RCV000506228 ; RCV001384078 ; RCV001613330
• dbSNP Id: rs587782947
• gnomAD v4: 15-48446711-C-T
• MyVariant Identifiers: chr15:g.48738908C>T (hg19) ; chr15:g.48446711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446711C>T , CM000677.2:g.48446711C>T	GRCh38
NC_000015.9:g.48738908C>T , CM000677.1:g.48738908C>T	GRCh37
NC_000015.8:g.46526200C>T	NCBI36
NG_008805.2:g.204078G>A , LRG_778:g.204078G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5783G>A	ENSP00000453958.2:p.Cys1928Tyr
ENST00000674301.2:c.5783G>A	ENSP00000501333.2:p.Cys1928Tyr
ENST00000684448.1:n.4457G>A
ENST00000316623.10:c.5783G>A MANE Select	ENSP00000325527.5:p.Cys1928Tyr
ENST00000674301.1:c.782G>A	ENSP00000501333.1:p.Cys261Tyr
ENST00000316623.9:c.5783G>A	ENSP00000325527.5:p.Cys1928Tyr
ENST00000537463.6:c.*1546G>A	ENSP00000440294.2:n.*1546G>A
ENST00000559133.5:c.1090G>A
NM_000138.4:c.5783G>A , LRG_778t1:c.5783G>A	NP_000129.3:p.Cys1928Tyr
NM_000138.5:c.5783G>A MANE Select	NP_000129.3:p.Cys1928Tyr