Canonical Allele Identifier: CA392338463
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1495161
ClinVar RCV Id: RCV001999164
dbSNP Id: rs2141315849

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48503874C>A , CM000677.2:g.48503874C>A GRCh38
NC_000015.9:g.48796071C>A , CM000677.1:g.48796071C>A GRCh37
NC_000015.8:g.46583363C>A NCBI36
NG_008805.2:g.146915G>T , LRG_778:g.146915G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2026G>T ENSP00000453958.2:p.Gly676Cys
ENST00000674301.2:c.2026G>T ENSP00000501333.2:p.Gly676Cys
ENST00000684448.1:n.700G>T
ENST00000316623.10:c.2026G>T MANE Select ENSP00000325527.5:p.Gly676Cys
ENST00000316623.9:c.2026G>T ENSP00000325527.5:p.Gly676Cys
ENST00000537463.6:c.637-29224G>T ENSP00000440294.2:n.637-29224G>T
NM_000138.4:c.2026G>T , LRG_778t1:c.2026G>T NP_000129.3:p.Gly676Cys
NM_000138.5:c.2026G>T MANE Select NP_000129.3:p.Gly676Cys