Canonical Allele Identifier: CA392347533
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1076563
ClinVar RCV Id: RCV001390510
dbSNP Id: rs1555400603

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520730C>A , CM000677.2:g.48520730C>A GRCh38
NC_000015.9:g.48812927C>A , CM000677.1:g.48812927C>A GRCh37
NC_000015.8:g.46600219C>A NCBI36
NG_008805.2:g.130059G>T , LRG_778:g.130059G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1076G>T ENSP00000453958.2:p.Cys359Phe
ENST00000674301.2:c.1076G>T ENSP00000501333.2:p.Cys359Phe
ENST00000316623.10:c.1076G>T MANE Select ENSP00000325527.5:p.Cys359Phe
ENST00000316623.9:c.1076G>T ENSP00000325527.5:p.Cys359Phe
ENST00000537463.6:c.636+16981G>T ENSP00000440294.2:n.636+16981G>T
NM_000138.4:c.1076G>T , LRG_778t1:c.1076G>T NP_000129.3:p.Cys359Phe
NM_000138.5:c.1076G>T MANE Select NP_000129.3:p.Cys359Phe