Canonical Allele Identifier: CA269518595

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1969402
• ClinVar RCV Id: RCV002717173 ; RCV003235741
• dbSNP Id: rs982954804
• gnomAD v4: 15-48411100-G-A
• MyVariant Identifiers: chr15:g.48703297G>A (hg19) ; chr15:g.48411100G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411100G>A , CM000677.2:g.48411100G>A	GRCh38
NC_000015.9:g.48703297G>A , CM000677.1:g.48703297G>A	GRCh37
NC_000015.8:g.46490589G>A	NCBI36
NG_008805.2:g.239689C>T , LRG_778:g.239689C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1314C>T	ENSP00000453958.2:n.*1314C>T
ENST00000674301.2:c.*2019C>T	ENSP00000501333.2:n.*2019C>T
ENST00000682158.1:n.1887C>T
ENST00000682170.1:n.2687C>T
ENST00000682767.1:n.1803C>T
ENST00000316623.10:c.8506C>T MANE Select	ENSP00000325527.5:p.Leu2836Phe
ENST00000674301.1:c.3672C>T	ENSP00000501333.1:n.3672C>T
ENST00000316623.9:c.8506C>T	ENSP00000325527.5:p.Leu2836Phe
ENST00000559133.5:c.3875C>T
NM_000138.4:c.8506C>T , LRG_778t1:c.8506C>T	NP_000129.3:p.Leu2836Phe
NM_000138.5:c.8506C>T MANE Select	NP_000129.3:p.Leu2836Phe