Canonical Allele Identifier: CA014826
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36073
ClinVar RCV Id: RCV000029735
dbSNP Id: rs193922203

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474300A>C , CM000677.2:g.48474300A>C GRCh38
NC_000015.9:g.48766497A>C , CM000677.1:g.48766497A>C GRCh37
NC_000015.8:g.46553789A>C NCBI36
NG_008805.2:g.176489T>G , LRG_778:g.176489T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4165T>G ENSP00000453958.2:p.Cys1389Gly
ENST00000674301.2:c.4165T>G ENSP00000501333.2:p.Cys1389Gly
ENST00000684448.1:n.2839T>G
ENST00000316623.10:c.4165T>G MANE Select ENSP00000325527.5:p.Cys1389Gly
ENST00000316623.9:c.4165T>G ENSP00000325527.5:p.Cys1389Gly
ENST00000537463.6:c.837T>G ENSP00000440294.2:p.Ala279=
NM_000138.4:c.4165T>G , LRG_778t1:c.4165T>G NP_000129.3:p.Cys1389Gly
NM_000138.5:c.4165T>G MANE Select NP_000129.3:p.Cys1389Gly