Canonical Allele Identifier: CA392327790
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427179
ClinVar RCV Id: RCV000489574 RCV000791340 RCV001217017 RCV002314846
dbSNP Id: rs1085308004
MyVariant Identifiers: chr15:g.48717617A>G (hg19) chr15:g.48425420A>G (hg38)
PubMed: PMID:15062093
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48425420A>G , CM000677.2:g.48425420A>G GRCh38
NC_000015.9:g.48717617A>G , CM000677.1:g.48717617A>G GRCh37
NC_000015.8:g.46504909A>G NCBI36
NG_008805.2:g.225369T>C , LRG_778:g.225369T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*210T>C ENSP00000453958.2:n.*210T>C
ENST00000674301.2:c.*915T>C ENSP00000501333.2:n.*915T>C
ENST00000682170.1:n.1583T>C
ENST00000682767.1:n.699T>C
ENST00000316623.10:c.7402T>C MANE Select ENSP00000325527.5:p.Cys2468Arg
ENST00000674301.1:c.2568T>C ENSP00000501333.1:n.2568T>C
ENST00000316623.9:c.7402T>C ENSP00000325527.5:p.Cys2468Arg
ENST00000559133.5:c.2771T>C
NM_000138.4:c.7402T>C , LRG_778t1:c.7402T>C NP_000129.3:p.Cys2468Arg
NM_000138.5:c.7402T>C MANE Select NP_000129.3:p.Cys2468Arg
Search 100 bp 5'
Search 100 bp 3'