Canonical Allele Identifier: CA392326040
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1480569
ClinVar RCV Id: RCV001985982
dbSNP Id: rs2141293332

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48487200T>C , CM000677.2:g.48487200T>C GRCh38
NC_000015.9:g.48779397T>C , CM000677.1:g.48779397T>C GRCh37
NC_000015.8:g.46566689T>C NCBI36
NG_008805.2:g.163589A>G , LRG_778:g.163589A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3464A>G ENSP00000453958.2:p.Asp1155Gly
ENST00000674301.2:c.3464A>G ENSP00000501333.2:p.Asp1155Gly
ENST00000684448.1:n.2138A>G
ENST00000316623.10:c.3464A>G MANE Select ENSP00000325527.5:p.Asp1155Gly
ENST00000316623.9:c.3464A>G ENSP00000325527.5:p.Asp1155Gly
ENST00000537463.6:c.637-12550A>G ENSP00000440294.2:n.637-12550A>G
NM_000138.4:c.3464A>G , LRG_778t1:c.3464A>G NP_000129.3:p.Asp1155Gly
NM_000138.5:c.3464A>G MANE Select NP_000129.3:p.Asp1155Gly