Canonical Allele Identifier: CA392330411
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549116
ClinVar RCV Id: RCV000663584
dbSNP Id: rs1555398974

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48492466C>T , CM000677.2:g.48492466C>T GRCh38
NC_000015.9:g.48784663C>T , CM000677.1:g.48784663C>T GRCh37
NC_000015.8:g.46571955C>T NCBI36
NG_008805.2:g.158323G>A , LRG_778:g.158323G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2849G>A ENSP00000453958.2:p.Cys950Tyr
ENST00000674301.2:c.2849G>A ENSP00000501333.2:p.Cys950Tyr
ENST00000684448.1:n.1523G>A
ENST00000316623.10:c.2849G>A MANE Select ENSP00000325527.5:p.Cys950Tyr
ENST00000316623.9:c.2849G>A ENSP00000325527.5:p.Cys950Tyr
ENST00000537463.6:c.637-17816G>A ENSP00000440294.2:n.637-17816G>A
NM_000138.4:c.2849G>A , LRG_778t1:c.2849G>A NP_000129.3:p.Cys950Tyr
NM_000138.5:c.2849G>A MANE Select NP_000129.3:p.Cys950Tyr