Canonical Allele Identifier: CA16606683

Gene: FBN1

Linked Data

• ClinVar Variation Id: 381609
• ClinVar RCV Id: RCV000424126 ; RCV000664005
• dbSNP Id: rs1057521100
• MyVariant Identifiers: chr15:g.48707782C>A (hg19) ; chr15:g.48415585C>A (hg38)
• ERepo: CA16606683/MONDO:0007947/022

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415585C>A , CM000677.2:g.48415585C>A	GRCh38
NC_000015.9:g.48707782C>A , CM000677.1:g.48707782C>A	GRCh37
NC_000015.8:g.46495074C>A	NCBI36
NG_008805.2:g.235204G>T , LRG_778:g.235204G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*810G>T	ENSP00000453958.2:n.*810G>T
ENST00000674301.2:c.*1515G>T	ENSP00000501333.2:n.*1515G>T
ENST00000682158.1:n.1383G>T
ENST00000682170.1:n.2183G>T
ENST00000682767.1:n.1299G>T
ENST00000316623.10:c.8002G>T MANE Select	ENSP00000325527.5:p.Gly2668Cys
ENST00000674301.1:c.3168G>T	ENSP00000501333.1:n.3168G>T
ENST00000316623.9:c.8002G>T	ENSP00000325527.5:p.Gly2668Cys
ENST00000559133.5:c.3371G>T
ENST00000561429.1:n.257G>T
NM_000138.4:c.8002G>T , LRG_778t1:c.8002G>T	NP_000129.3:p.Gly2668Cys
NM_000138.5:c.8002G>T MANE Select	NP_000129.3:p.Gly2668Cys