Canonical Allele Identifier: CA014381
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16440
dbSNP Id: rs137854467

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48600217G>A , CM000677.2:g.48600217G>A GRCh38
NC_000015.9:g.48892414G>A , CM000677.1:g.48892414G>A GRCh37
NC_000015.8:g.46679706G>A NCBI36
NG_008805.2:g.50572C>T , LRG_778:g.50572C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.364C>T ENSP00000453958.2:p.Arg122Cys
ENST00000674301.2:c.364C>T ENSP00000501333.2:p.Arg122Cys
ENST00000316623.10:c.364C>T MANE Select ENSP00000325527.5:p.Arg122Cys
ENST00000316623.9:c.364C>T ENSP00000325527.5:p.Arg122Cys
ENST00000537463.6:c.364C>T ENSP00000440294.2:p.Arg122Cys
NM_000138.4:c.364C>T , LRG_778t1:c.364C>T NP_000129.3:p.Arg122Cys
NM_000138.5:c.364C>T MANE Select NP_000129.3:p.Arg122Cys