Canonical Allele Identifier: CA10583241
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237100
dbSNP Id: rs878853686

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48446811A>G , CM000677.2:g.48446811A>G GRCh38
NC_000015.9:g.48739008A>G , CM000677.1:g.48739008A>G GRCh37
NC_000015.8:g.46526300A>G NCBI36
NG_008805.2:g.203978T>C , LRG_778:g.203978T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5683T>C ENSP00000453958.2:p.Cys1895Arg
ENST00000674301.2:c.5683T>C ENSP00000501333.2:p.Cys1895Arg
ENST00000684448.1:n.4357T>C
ENST00000316623.10:c.5683T>C MANE Select ENSP00000325527.5:p.Cys1895Arg
ENST00000674301.1:c.682T>C ENSP00000501333.1:p.Cys228Arg
ENST00000316623.9:c.5683T>C ENSP00000325527.5:p.Cys1895Arg
ENST00000537463.6:c.*1446T>C ENSP00000440294.2:n.*1446T>C
ENST00000559133.5:c.990T>C
NM_000138.4:c.5683T>C , LRG_778t1:c.5683T>C NP_000129.3:p.Cys1895Arg
NM_000138.5:c.5683T>C MANE Select NP_000129.3:p.Cys1895Arg