Canonical Allele Identifier: CA017457
Gene: FBN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36123
ClinVar RCV Id: RCV000029785
dbSNP Id: rs193922240

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48415689C>G , CM000677.2:g.48415689C>G GRCh38
NC_000015.8:g.46495178C>G NCBI36
NC_000015.9:g.48707886C>G , CM000677.1:g.48707886C>G GRCh37
NG_008805.2:g.235100G>C , LRG_778:g.235100G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000316623.9:c.7898G>C ENSP00000325527.5:p.Cys2633Ser
ENST00000559133.5:n.3267G>C
ENST00000561429.1:n.153G>C
NM_000138.4:c.7898G>C , LRG_778t1:c.7898G>C NP_000129.3:p.Cys2633Ser