Canonical Allele Identifier: CA269519916
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457207
dbSNP Id: rs112375043

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472594G>C , CM000677.2:g.48472594G>C GRCh38
NC_000015.9:g.48764791G>C , CM000677.1:g.48764791G>C GRCh37
NC_000015.8:g.46552083G>C NCBI36
NG_008805.2:g.178195C>G , LRG_778:g.178195C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4293C>G ENSP00000453958.2:p.Cys1431Trp
ENST00000674301.2:c.4293C>G ENSP00000501333.2:p.Cys1431Trp
ENST00000683268.1:n.260C>G
ENST00000684448.1:n.2967C>G
ENST00000316623.10:c.4293C>G MANE Select ENSP00000325527.5:p.Cys1431Trp
ENST00000316623.9:c.4293C>G ENSP00000325527.5:p.Cys1431Trp
ENST00000537463.6:c.*56C>G ENSP00000440294.2:n.*56C>G
NM_000138.4:c.4293C>G , LRG_778t1:c.4293C>G NP_000129.3:p.Cys1431Trp
NM_000138.5:c.4293C>G MANE Select NP_000129.3:p.Cys1431Trp