Canonical Allele Identifier: CA049502
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 316381
dbSNP Id: rs150126098
COSMIC: COSM962396

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48489954G>A , CM000677.2:g.48489954G>A GRCh38
NC_000015.9:g.48782151G>A , CM000677.1:g.48782151G>A GRCh37
NC_000015.8:g.46569443G>A NCBI36
NG_008805.2:g.160835C>T , LRG_778:g.160835C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2979C>T ENSP00000453958.2:p.Cys993=
ENST00000674301.2:c.2979C>T ENSP00000501333.2:p.Cys993=
ENST00000684448.1:n.1653C>T
ENST00000316623.10:c.2979C>T MANE Select ENSP00000325527.5:p.Cys993=
ENST00000316623.9:c.2979C>T ENSP00000325527.5:p.Cys993=
ENST00000537463.6:c.637-15304C>T ENSP00000440294.2:n.637-15304C>T
NM_000138.4:c.2979C>T , LRG_778t1:c.2979C>T NP_000129.3:p.Cys993=
NM_000138.5:c.2979C>T MANE Select NP_000129.3:p.Cys993=