Canonical Allele Identifier: CA392327790

Gene: FBN1

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

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