Canonical Allele Identifier: CA392340092
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430389
dbSNP Id: rs1131691938

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445454A>G , CM000677.2:g.48445454A>G GRCh38
NC_000015.9:g.48737651A>G , CM000677.1:g.48737651A>G GRCh37
NC_000015.8:g.46524943A>G NCBI36
NG_008805.2:g.205335T>C , LRG_778:g.205335T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5839T>C ENSP00000453958.2:p.Cys1947Arg
ENST00000674301.2:c.5839T>C ENSP00000501333.2:p.Cys1947Arg
ENST00000684448.1:n.4513T>C
ENST00000316623.10:c.5839T>C MANE Select ENSP00000325527.5:p.Cys1947Arg
ENST00000674301.1:c.838T>C ENSP00000501333.1:p.Cys280Arg
ENST00000316623.9:c.5839T>C ENSP00000325527.5:p.Cys1947Arg
ENST00000537463.6:c.*1602T>C ENSP00000440294.2:n.*1602T>C
ENST00000559133.5:c.1146T>C
NM_000138.4:c.5839T>C , LRG_778t1:c.5839T>C NP_000129.3:p.Cys1947Arg
NM_000138.5:c.5839T>C MANE Select NP_000129.3:p.Cys1947Arg