Canonical Allele Identifier: CA10587789

Gene: FBN1

Linked Data

• ClinVar Variation Id: 264272
• ClinVar RCV Id: RCV001374807 ; RCV000540250 ; RCV000659583 ; RCV002311119 ; RCV000763353 ; RCV003441830
• dbSNP Id: rs111984349
• MyVariant Identifiers: chr15:g.48707956C>T (hg19) ; chr15:g.48415759C>T (hg38)
• PubMed: PMID:10464652 ; PMID:12938084 ; PMID:16222657 ; PMID:17657824 ; PMID:21542060

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415759C>T , CM000677.2:g.48415759C>T	GRCh38
NC_000015.9:g.48707956C>T , CM000677.1:g.48707956C>T	GRCh37
NC_000015.8:g.46495248C>T	NCBI36
NG_008805.2:g.235030G>A , LRG_778:g.235030G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*636G>A	ENSP00000453958.2:n.*636G>A
ENST00000674301.2:c.*1341G>A	ENSP00000501333.2:n.*1341G>A
ENST00000682158.1:n.1209G>A
ENST00000682170.1:n.2009G>A
ENST00000682767.1:n.1125G>A
ENST00000316623.10:c.7828G>A MANE Select	ENSP00000325527.5:p.Glu2610Lys
ENST00000674301.1:c.2994G>A	ENSP00000501333.1:n.2994G>A
ENST00000316623.9:c.7828G>A	ENSP00000325527.5:p.Glu2610Lys
ENST00000559133.5:c.3197G>A
ENST00000561429.1:n.83G>A
NM_000138.4:c.7828G>A , LRG_778t1:c.7828G>A	NP_000129.3:p.Glu2610Lys
NM_000138.5:c.7828G>A MANE Select	NP_000129.3:p.Glu2610Lys