Canonical Allele Identifier: CA012607
Gene: FBN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 42295
dbSNP Id: rs25403

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48613073G>A , CM000677.2:g.48613073G>A GRCh38
NC_000015.9:g.48905270G>A , CM000677.1:g.48905270G>A GRCh37
NC_000015.8:g.46692562G>A NCBI36
NG_008805.2:g.37716C>T , LRG_778:g.37716C>T

Transcript Alleles

HGVS Amino-acid change
NM_000138.4:c.184C>T , LRG_778t1:c.184C>T NP_000129.3:p.Arg62Cys
ENST00000316623.9:c.184C>T ENSP00000325527.5:p.Arg62Cys
ENST00000537463.6:c.184C>T ENSP00000440294.2:p.Arg62Cys