Canonical Allele Identifier: CA392339936
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445384G>T , CM000677.2:g.48445384G>T GRCh38
NC_000015.9:g.48737581G>T , CM000677.1:g.48737581G>T GRCh37
NC_000015.8:g.46524873G>T NCBI36
NG_008805.2:g.205405C>A , LRG_778:g.205405C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5909C>A ENSP00000453958.2:p.Thr1970Asn
ENST00000674301.2:c.5909C>A ENSP00000501333.2:p.Thr1970Asn
ENST00000684448.1:n.4583C>A
ENST00000316623.10:c.5909C>A MANE Select ENSP00000325527.5:p.Thr1970Asn
ENST00000674301.1:c.908C>A ENSP00000501333.1:p.Thr303Asn
ENST00000316623.9:c.5909C>A ENSP00000325527.5:p.Thr1970Asn
ENST00000537463.6:c.*1672C>A ENSP00000440294.2:n.*1672C>A
ENST00000559133.5:c.1216C>A
ENST00000560820.1:n.29C>A
NM_000138.4:c.5909C>A , LRG_778t1:c.5909C>A NP_000129.3:p.Thr1970Asn
NM_000138.5:c.5909C>A MANE Select NP_000129.3:p.Thr1970Asn