Canonical Allele Identifier: CA392330406
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48492465A>C , CM000677.2:g.48492465A>C GRCh38
NC_000015.9:g.48784662A>C , CM000677.1:g.48784662A>C GRCh37
NC_000015.8:g.46571954A>C NCBI36
NG_008805.2:g.158324T>G , LRG_778:g.158324T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2850T>G ENSP00000453958.2:p.Cys950Trp
ENST00000674301.2:c.2850T>G ENSP00000501333.2:p.Cys950Trp
ENST00000684448.1:n.1524T>G
ENST00000316623.10:c.2850T>G MANE Select ENSP00000325527.5:p.Cys950Trp
ENST00000316623.9:c.2850T>G ENSP00000325527.5:p.Cys950Trp
ENST00000537463.6:c.637-17815T>G ENSP00000440294.2:n.637-17815T>G
NM_000138.4:c.2850T>G , LRG_778t1:c.2850T>G NP_000129.3:p.Cys950Trp
NM_000138.5:c.2850T>G MANE Select NP_000129.3:p.Cys950Trp