Canonical Allele Identifier: CA392318803
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411111C>G , CM000677.2:g.48411111C>G GRCh38
NC_000015.9:g.48703308C>G , CM000677.1:g.48703308C>G GRCh37
NC_000015.8:g.46490600C>G NCBI36
NG_008805.2:g.239678G>C , LRG_778:g.239678G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1303G>C ENSP00000453958.2:n.*1303G>C
ENST00000674301.2:c.*2008G>C ENSP00000501333.2:n.*2008G>C
ENST00000682158.1:n.1876G>C
ENST00000682170.1:n.2676G>C
ENST00000682767.1:n.1792G>C
ENST00000316623.10:c.8495G>C MANE Select ENSP00000325527.5:p.Ser2832Thr
ENST00000674301.1:c.3661G>C ENSP00000501333.1:n.3661G>C
ENST00000316623.9:c.8495G>C ENSP00000325527.5:p.Ser2832Thr
ENST00000559133.5:c.3864G>C
NM_000138.4:c.8495G>C , LRG_778t1:c.8495G>C NP_000129.3:p.Ser2832Thr
NM_000138.5:c.8495G>C MANE Select NP_000129.3:p.Ser2832Thr