Canonical Allele Identifier: CA10587789
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 264272
ClinVar RCV Id: RCV000540250 RCV000659583 RCV000763353 RCV001374807 RCV002311119
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
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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
Search 100 bp 5'
Search 100 bp 3'