Canonical Allele Identifier: CA017633

Gene: FBN1

Linked Data

• ClinVar Variation Id: 40245
• ClinVar RCV Id: RCV000033243 ; RCV001386016
• dbSNP Id: rs398122833
• MyVariant Identifiers: chr15:g.48704765C>A (hg19) ; chr15:g.48412568C>A (hg38)
• PubMed: PMID:21594993 ; PMID:27087445

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412568C>A , CM000677.2:g.48412568C>A	GRCh38
NC_000015.9:g.48704765C>A , CM000677.1:g.48704765C>A	GRCh37
NC_000015.8:g.46492057C>A	NCBI36
NG_008805.2:g.238221G>T , LRG_778:g.238221G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1034+1G>T	ENSP00000453958.2:n.*1034+1G>T
ENST00000674301.2:c.*1739+1G>T	ENSP00000501333.2:n.*1739+1G>T
ENST00000682158.1:n.1607+1G>T
ENST00000682170.1:n.2407+1G>T
ENST00000682767.1:n.1523+1G>T
ENST00000316623.10:c.8226+1G>T MANE Select	ENSP00000325527.5:n.8226+1G>T
ENST00000674301.1:c.3392+1G>T	ENSP00000501333.1:n.3392+1G>T
ENST00000316623.9:c.8226+1G>T	ENSP00000325527.5:n.8226+1G>T
ENST00000559133.5:c.3595+1G>T
ENST00000561429.1:n.481+1G>T
NM_000138.4:c.8226+1G>T , LRG_778t1:c.8226+1G>T	NP_000129.3:n.8226+1G>T
NM_000138.5:c.8226+1G>T MANE Select	NP_000129.3:n.8226+1G>T