Canonical Allele Identifier: CA392319062

Gene: FBN1

Linked Data

• ClinVar Variation Id: 953802
• ClinVar RCV Id: RCV001226147
• dbSNP Id: rs2042858812
• MyVariant Identifiers: chr15:g.48703366T>A (hg19) ; chr15:g.48411169T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411169T>A , CM000677.2:g.48411169T>A	GRCh38
NC_000015.9:g.48703366T>A , CM000677.1:g.48703366T>A	GRCh37
NC_000015.8:g.46490658T>A	NCBI36
NG_008805.2:g.239620A>T , LRG_778:g.239620A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1245A>T	ENSP00000453958.2:n.*1245A>T
ENST00000674301.2:c.*1950A>T	ENSP00000501333.2:n.*1950A>T
ENST00000682158.1:n.1818A>T
ENST00000682170.1:n.2618A>T
ENST00000682767.1:n.1734A>T
ENST00000316623.10:c.8437A>T MANE Select	ENSP00000325527.5:p.Ser2813Cys
ENST00000674301.1:c.3603A>T	ENSP00000501333.1:n.3603A>T
ENST00000316623.9:c.8437A>T	ENSP00000325527.5:p.Ser2813Cys
ENST00000559133.5:c.3806A>T
NM_000138.4:c.8437A>T , LRG_778t1:c.8437A>T	NP_000129.3:p.Ser2813Cys
NM_000138.5:c.8437A>T MANE Select	NP_000129.3:p.Ser2813Cys