Canonical Allele Identifier: CA392338780
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457168
ClinVar RCV Id: RCV000530267
dbSNP Id: rs765018527

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48503917G>C , CM000677.2:g.48503917G>C GRCh38
NC_000015.9:g.48796114G>C , CM000677.1:g.48796114G>C GRCh37
NC_000015.8:g.46583406G>C NCBI36
NG_008805.2:g.146872C>G , LRG_778:g.146872C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1983C>G ENSP00000453958.2:p.Cys661Trp
ENST00000674301.2:c.1983C>G ENSP00000501333.2:p.Cys661Trp
ENST00000684448.1:n.657C>G
ENST00000316623.10:c.1983C>G MANE Select ENSP00000325527.5:p.Cys661Trp
ENST00000316623.9:c.1983C>G ENSP00000325527.5:p.Cys661Trp
ENST00000537463.6:c.637-29267C>G ENSP00000440294.2:n.637-29267C>G
NM_000138.4:c.1983C>G , LRG_778t1:c.1983C>G NP_000129.3:p.Cys661Trp
NM_000138.5:c.1983C>G MANE Select NP_000129.3:p.Cys661Trp