Canonical Allele Identifier: CA392327961

Gene: FBN1

Linked Data

• ClinVar Variation Id: 527155
• ClinVar RCV Id: RCV000631926
• dbSNP Id: rs1555394410
• gnomAD v3: 15-48425461-G-A
• gnomAD v4: 15-48425461-G-A
• MyVariant Identifiers: chr15:g.48717658G>A (hg19) ; chr15:g.48425461G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425461G>A , CM000677.2:g.48425461G>A	GRCh38
NC_000015.9:g.48717658G>A , CM000677.1:g.48717658G>A	GRCh37
NC_000015.8:g.46504950G>A	NCBI36
NG_008805.2:g.225328C>T , LRG_778:g.225328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*169C>T	ENSP00000453958.2:n.*169C>T
ENST00000674301.2:c.*874C>T	ENSP00000501333.2:n.*874C>T
ENST00000682170.1:n.1542C>T
ENST00000682767.1:n.658C>T
ENST00000316623.10:c.7361C>T MANE Select	ENSP00000325527.5:p.Pro2454Leu
ENST00000674301.1:c.2527C>T	ENSP00000501333.1:n.2527C>T
ENST00000316623.9:c.7361C>T	ENSP00000325527.5:p.Pro2454Leu
ENST00000559133.5:c.2730C>T
NM_000138.4:c.7361C>T , LRG_778t1:c.7361C>T	NP_000129.3:p.Pro2454Leu
NM_000138.5:c.7361C>T MANE Select	NP_000129.3:p.Pro2454Leu