Canonical Allele Identifier: CA016504
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200087
dbSNP Id: rs794728252

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48436961C>T , CM000677.2:g.48436961C>T GRCh38
NC_000015.9:g.48729158C>T , CM000677.1:g.48729158C>T GRCh37
NC_000015.8:g.46516450C>T NCBI36
NG_008805.2:g.213828G>A , LRG_778:g.213828G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6496G>A ENSP00000453958.2:p.Asp2166Asn
ENST00000674301.2:c.6496G>A ENSP00000501333.2:p.Asp2166Asn
ENST00000682170.1:n.105G>A
ENST00000316623.10:c.6496G>A MANE Select ENSP00000325527.5:p.Asp2166Asn
ENST00000674301.1:c.1495G>A ENSP00000501333.1:p.Asp499Asn
ENST00000316623.9:c.6496G>A ENSP00000325527.5:p.Asp2166Asn
ENST00000537463.6:c.*2259G>A ENSP00000440294.2:n.*2259G>A
ENST00000559133.5:c.1803G>A
NM_000138.4:c.6496G>A , LRG_778t1:c.6496G>A NP_000129.3:p.Asp2166Asn
NM_000138.5:c.6496G>A MANE Select NP_000129.3:p.Asp2166Asn