Canonical Allele Identifier: CA392329281

Gene: FBN1

Linked Data

• ClinVar Variation Id: 690431
• ClinVar RCV Id: RCV000851391 ; RCV003768621
• dbSNP Id: rs397515847
• MyVariant Identifiers: chr15:g.48719800A>T (hg19) ; chr15:g.48427603A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427603A>T , CM000677.2:g.48427603A>T	GRCh38
NC_000015.9:g.48719800A>T , CM000677.1:g.48719800A>T	GRCh37
NC_000015.8:g.46507092A>T	NCBI36
NG_008805.2:g.223186T>A , LRG_778:g.223186T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.7230T>A	ENSP00000453958.2:p.Ser2410=
ENST00000674301.2:c.*681T>A	ENSP00000501333.2:n.*681T>A
ENST00000682170.1:n.1349T>A
ENST00000682767.1:n.465T>A
ENST00000316623.10:c.7168T>A MANE Select	ENSP00000325527.5:p.Cys2390Ser
ENST00000674301.1:c.2334T>A	ENSP00000501333.1:n.2334T>A
ENST00000316623.9:c.7168T>A	ENSP00000325527.5:p.Cys2390Ser
ENST00000559133.5:c.2537T>A
NM_000138.4:c.7168T>A , LRG_778t1:c.7168T>A	NP_000129.3:p.Cys2390Ser
NM_000138.5:c.7168T>A MANE Select	NP_000129.3:p.Cys2390Ser