Canonical Allele Identifier: CA392340013

Gene: FBN1

Linked Data

• ClinVar Variation Id: 495630
• ClinVar RCV Id: RCV000588466 ; RCV001002491 ; RCV001390032
• dbSNP Id: rs1555395750
• MyVariant Identifiers: chr15:g.48737616G>T (hg19) ; chr15:g.48445419G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445419G>T , CM000677.2:g.48445419G>T	GRCh38
NC_000015.9:g.48737616G>T , CM000677.1:g.48737616G>T	GRCh37
NC_000015.8:g.46524908G>T	NCBI36
NG_008805.2:g.205370C>A , LRG_778:g.205370C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5874C>A	ENSP00000453958.2:p.Cys1958Ter
ENST00000674301.2:c.5874C>A	ENSP00000501333.2:p.Cys1958Ter
ENST00000684448.1:n.4548C>A
ENST00000316623.10:c.5874C>A MANE Select	ENSP00000325527.5:p.Cys1958Ter
ENST00000674301.1:c.873C>A	ENSP00000501333.1:p.Cys291Ter
ENST00000316623.9:c.5874C>A	ENSP00000325527.5:p.Cys1958Ter
ENST00000537463.6:c.*1637C>A	ENSP00000440294.2:n.*1637C>A
ENST00000559133.5:c.1181C>A
NM_000138.4:c.5874C>A , LRG_778t1:c.5874C>A	NP_000129.3:p.Cys1958Ter
NM_000138.5:c.5874C>A MANE Select	NP_000129.3:p.Cys1958Ter