Canonical Allele Identifier: CA017020

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200104
• ClinVar RCV Id: RCV000181591 ; RCV003765118
• dbSNP Id: rs794728264
• MyVariant Identifiers: chr15:g.48719857A>G (hg19) ; chr15:g.48427660A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427660A>G , CM000677.2:g.48427660A>G	GRCh38
NC_000015.9:g.48719857A>G , CM000677.1:g.48719857A>G	GRCh37
NC_000015.8:g.46507149A>G	NCBI36
NG_008805.2:g.223129T>C , LRG_778:g.223129T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.7173T>C	ENSP00000453958.2:p.Ala2391=
ENST00000674301.2:c.*624T>C	ENSP00000501333.2:n.*624T>C
ENST00000682170.1:n.1292T>C
ENST00000682767.1:n.408T>C
ENST00000316623.10:c.7111T>C MANE Select	ENSP00000325527.5:p.Trp2371Arg
ENST00000674301.1:c.2277T>C	ENSP00000501333.1:n.2277T>C
ENST00000316623.9:c.7111T>C	ENSP00000325527.5:p.Trp2371Arg
ENST00000559133.5:c.2480T>C
NM_000138.4:c.7111T>C , LRG_778t1:c.7111T>C	NP_000129.3:p.Trp2371Arg
NM_000138.5:c.7111T>C MANE Select	NP_000129.3:p.Trp2371Arg