Canonical Allele Identifier: CA015930
Gene: FBN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36092
ClinVar RCV Id: RCV000029754
dbSNP Id: rs193922216

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48448768C>G , CM000677.2:g.48448768C>G GRCh38
NC_000015.9:g.48740965C>G , CM000677.1:g.48740965C>G GRCh37
NC_000015.8:g.46528257C>G NCBI36
NG_008805.2:g.202021G>C , LRG_778:g.202021G>C

Transcript Alleles

HGVS Amino-acid change
NM_000138.4:c.5671G>C , LRG_778t1:c.5671G>C NP_000129.3:p.Asp1891His
ENST00000316623.9:c.5671G>C ENSP00000325527.5:p.Asp1891His
ENST00000537463.6:c.*1434G>C ENSP00000440294.2:p.=
ENST00000559133.5:n.978G>C