Canonical Allele Identifier: CA012618
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42296
dbSNP Id: rs145942328
COSMIC: COSM253260

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48613072C>T , CM000677.2:g.48613072C>T GRCh38
NC_000015.9:g.48905269C>T , CM000677.1:g.48905269C>T GRCh37
NC_000015.8:g.46692561C>T NCBI36
NG_008805.2:g.37717G>A , LRG_778:g.37717G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.185G>A ENSP00000453958.2:p.Arg62His
ENST00000674301.2:c.185G>A ENSP00000501333.2:p.Arg62His
ENST00000316623.10:c.185G>A MANE Select ENSP00000325527.5:p.Arg62His
ENST00000316623.9:c.185G>A ENSP00000325527.5:p.Arg62His
ENST00000537463.6:c.185G>A ENSP00000440294.2:p.Arg62His
NM_000138.4:c.185G>A , LRG_778t1:c.185G>A NP_000129.3:p.Arg62His
NM_000138.5:c.185G>A MANE Select NP_000129.3:p.Arg62His