Canonical Allele Identifier: CA392326285
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427047
dbSNP Id: rs1085307921

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48422068T>C , CM000677.2:g.48422068T>C GRCh38
NC_000015.9:g.48714265T>C , CM000677.1:g.48714265T>C GRCh37
NC_000015.8:g.46501557T>C NCBI36
NG_008805.2:g.228721A>G , LRG_778:g.228721A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*262A>G ENSP00000453958.2:n.*262A>G
ENST00000674301.2:c.*967A>G ENSP00000501333.2:n.*967A>G
ENST00000682170.1:n.1635A>G
ENST00000682767.1:n.751A>G
ENST00000316623.10:c.7454A>G MANE Select ENSP00000325527.5:p.Asp2485Gly
ENST00000674301.1:c.2620A>G ENSP00000501333.1:n.2620A>G
ENST00000316623.9:c.7454A>G ENSP00000325527.5:p.Asp2485Gly
ENST00000559133.5:c.2823A>G
NM_000138.4:c.7454A>G , LRG_778t1:c.7454A>G NP_000129.3:p.Asp2485Gly
NM_000138.5:c.7454A>G MANE Select NP_000129.3:p.Asp2485Gly