Canonical Allele Identifier: CA016813
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 177938
ClinVar RCV Id: RCV000154597
dbSNP Id: rs727504410
MyVariant Identifiers: chr15:g.48720654G>A (hg19) chr15:g.48428457G>A (hg38)
PubMed: PMID:24793577
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428457G>A , CM000677.2:g.48428457G>A GRCh38
NC_000015.9:g.48720654G>A , CM000677.1:g.48720654G>A GRCh37
NC_000015.8:g.46507946G>A NCBI36
NG_008805.2:g.222332C>T , LRG_778:g.222332C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6886C>T ENSP00000453958.2:p.Gln2296Ter
ENST00000674301.2:c.*337C>T ENSP00000501333.2:n.*337C>T
ENST00000682170.1:n.495C>T
ENST00000682767.1:n.121C>T
ENST00000316623.10:c.6886C>T MANE Select ENSP00000325527.5:p.Gln2296Ter
ENST00000674301.1:c.1990C>T ENSP00000501333.1:n.1990C>T
ENST00000316623.9:c.6886C>T ENSP00000325527.5:p.Gln2296Ter
ENST00000559133.5:c.2193C>T
ENST00000560720.1:n.173C>T
NM_000138.4:c.6886C>T , LRG_778t1:c.6886C>T NP_000129.3:p.Gln2296Ter
NM_000138.5:c.6886C>T MANE Select NP_000129.3:p.Gln2296Ter
Search 100 bp 5'
Search 100 bp 3'