Canonical Allele Identifier: CA392340118

Gene: FBN1

Linked Data

• ClinVar Variation Id: 577401
• ClinVar RCV Id: RCV000700145
• dbSNP Id: rs1566898433
• MyVariant Identifiers: chr15:g.48737662C>A (hg19) ; chr15:g.48445465C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445465C>A , CM000677.2:g.48445465C>A	GRCh38
NC_000015.9:g.48737662C>A , CM000677.1:g.48737662C>A	GRCh37
NC_000015.8:g.46524954C>A	NCBI36
NG_008805.2:g.205324G>T , LRG_778:g.205324G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5828G>T	ENSP00000453958.2:p.Arg1943Ile
ENST00000674301.2:c.5828G>T	ENSP00000501333.2:p.Arg1943Ile
ENST00000684448.1:n.4502G>T
ENST00000316623.10:c.5828G>T MANE Select	ENSP00000325527.5:p.Arg1943Ile
ENST00000674301.1:c.827G>T	ENSP00000501333.1:p.Arg276Ile
ENST00000316623.9:c.5828G>T	ENSP00000325527.5:p.Arg1943Ile
ENST00000537463.6:c.*1591G>T	ENSP00000440294.2:n.*1591G>T
ENST00000559133.5:c.1135G>T
NM_000138.4:c.5828G>T , LRG_778t1:c.5828G>T	NP_000129.3:p.Arg1943Ile
NM_000138.5:c.5828G>T MANE Select	NP_000129.3:p.Arg1943Ile