Canonical Allele Identifier: CA392325919

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1220219
• ClinVar RCV Id: RCV001590894 ; RCV002246023
• dbSNP Id: rs2141222456
• MyVariant Identifiers: chr15:g.48714192G>T (hg19) ; chr15:g.48421995G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421995G>T , CM000677.2:g.48421995G>T	GRCh38
NC_000015.9:g.48714192G>T , CM000677.1:g.48714192G>T	GRCh37
NC_000015.8:g.46501484G>T	NCBI36
NG_008805.2:g.228794C>A , LRG_778:g.228794C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*335C>A	ENSP00000453958.2:n.*335C>A
ENST00000674301.2:c.*1040C>A	ENSP00000501333.2:n.*1040C>A
ENST00000682170.1:n.1708C>A
ENST00000682767.1:n.824C>A
ENST00000316623.10:c.7527C>A MANE Select	ENSP00000325527.5:p.Cys2509Ter
ENST00000674301.1:c.2693C>A	ENSP00000501333.1:n.2693C>A
ENST00000316623.9:c.7527C>A	ENSP00000325527.5:p.Cys2509Ter
ENST00000559133.5:c.2896C>A
NM_000138.4:c.7527C>A , LRG_778t1:c.7527C>A	NP_000129.3:p.Cys2509Ter
NM_000138.5:c.7527C>A MANE Select	NP_000129.3:p.Cys2509Ter