Canonical Allele Identifier: CA10647078
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 316339
dbSNP Id: rs566419089

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409738T>C , CM000677.2:g.48409738T>C GRCh38
NC_000015.9:g.48701935T>C , CM000677.1:g.48701935T>C GRCh37
NC_000015.8:g.46489227T>C NCBI36
NG_008805.2:g.241051A>G , LRG_778:g.241051A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.4049A>G
ENST00000682767.1:n.3165A>G
ENST00000316623.10:c.*1252A>G MANE Select ENSP00000325527.5:n.*1252A>G
ENST00000316623.9:c.*1252A>G ENSP00000325527.5:n.*1252A>G
NM_000138.4:c.*1252A>G , LRG_778t1:c.*1252A>G NP_000129.3:n.*1252A>G
NM_000138.5:c.*1252A>G MANE Select NP_000129.3:n.*1252A>G