Canonical Allele Identifier: CA017835
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42446
ClinVar RCV Id: RCV000035292
dbSNP Id: rs397515865

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411006T>G , CM000677.2:g.48411006T>G GRCh38
NC_000015.9:g.48703203T>G , CM000677.1:g.48703203T>G GRCh37
NC_000015.8:g.46490495T>G NCBI36
NG_008805.2:g.239783A>C , LRG_778:g.239783A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1408A>C ENSP00000453958.2:n.*1408A>C
ENST00000682158.1:n.1981A>C
ENST00000682170.1:n.2781A>C
ENST00000682767.1:n.1897A>C
ENST00000316623.10:c.8600A>C MANE Select ENSP00000325527.5:p.Gln2867Pro
ENST00000316623.9:c.8600A>C ENSP00000325527.5:p.Gln2867Pro
ENST00000559133.5:c.3969A>C
NM_000138.4:c.8600A>C , LRG_778t1:c.8600A>C NP_000129.3:p.Gln2867Pro
NM_000138.5:c.8600A>C MANE Select NP_000129.3:p.Gln2867Pro