Canonical Allele Identifier: CA16614394
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406349
ClinVar RCV Id: RCV000457685 RCV001382029
dbSNP Id: rs1060501077
MyVariant Identifiers: chr15:g.48714253C>T (hg19) chr15:g.48422056C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48422056C>T , CM000677.2:g.48422056C>T GRCh38
NC_000015.9:g.48714253C>T , CM000677.1:g.48714253C>T GRCh37
NC_000015.8:g.46501545C>T NCBI36
NG_008805.2:g.228733G>A , LRG_778:g.228733G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*274G>A ENSP00000453958.2:n.*274G>A
ENST00000674301.2:c.*979G>A ENSP00000501333.2:n.*979G>A
ENST00000682170.1:n.1647G>A
ENST00000682767.1:n.763G>A
ENST00000316623.10:c.7466G>A MANE Select ENSP00000325527.5:p.Cys2489Tyr
ENST00000674301.1:c.2632G>A ENSP00000501333.1:n.2632G>A
ENST00000316623.9:c.7466G>A ENSP00000325527.5:p.Cys2489Tyr
ENST00000559133.5:c.2835G>A
NM_000138.4:c.7466G>A , LRG_778t1:c.7466G>A NP_000129.3:p.Cys2489Tyr
NM_000138.5:c.7466G>A MANE Select NP_000129.3:p.Cys2489Tyr
Search 100 bp 5'
Search 100 bp 3'