Canonical Allele Identifier: CA392325737

Gene: FBN1

Linked Data

• ClinVar Variation Id: 527183
• ClinVar RCV Id: RCV000631966 ; RCV000659581 ; RCV001508767
• dbSNP Id: rs113544411
• MyVariant Identifiers: chr15:g.48713849G>T (hg19) ; chr15:g.48421652G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421652G>T , CM000677.2:g.48421652G>T	GRCh38
NC_000015.9:g.48713849G>T , CM000677.1:g.48713849G>T	GRCh37
NC_000015.8:g.46501141G>T	NCBI36
NG_008805.2:g.229137C>A , LRG_778:g.229137C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*413C>A	ENSP00000453958.2:n.*413C>A
ENST00000674301.2:c.*1118C>A	ENSP00000501333.2:n.*1118C>A
ENST00000682170.1:n.1786C>A
ENST00000682767.1:n.902C>A
ENST00000316623.10:c.7605C>A MANE Select	ENSP00000325527.5:p.Cys2535Ter
ENST00000674301.1:c.2771C>A	ENSP00000501333.1:n.2771C>A
ENST00000316623.9:c.7605C>A	ENSP00000325527.5:p.Cys2535Ter
ENST00000559133.5:c.2974C>A
NM_000138.4:c.7605C>A , LRG_778t1:c.7605C>A	NP_000129.3:p.Cys2535Ter
NM_000138.5:c.7605C>A MANE Select	NP_000129.3:p.Cys2535Ter