Canonical Allele Identifier: CA269532860
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547334
ClinVar RCV Id: RCV000659558 RCV001116072 RCV001120997 RCV001116073 RCV001116074 RCV001116071
dbSNP Id: rs363806
MyVariant Identifiers: chr15:g.48737664G>T (hg19) chr15:g.48445467G>T (hg38)
ERepo: CA269532860/MONDO:0007947/022
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445467G>T , CM000677.2:g.48445467G>T GRCh38
NC_000015.9:g.48737664G>T , CM000677.1:g.48737664G>T GRCh37
NC_000015.8:g.46524956G>T NCBI36
NG_008805.2:g.205322C>A , LRG_778:g.205322C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5826C>A ENSP00000453958.2:p.Cys1942Ter
ENST00000674301.2:c.5826C>A ENSP00000501333.2:p.Cys1942Ter
ENST00000684448.1:n.4500C>A
ENST00000316623.10:c.5826C>A MANE Select ENSP00000325527.5:p.Cys1942Ter
ENST00000674301.1:c.825C>A ENSP00000501333.1:p.Cys275Ter
ENST00000316623.9:c.5826C>A ENSP00000325527.5:p.Cys1942Ter
ENST00000537463.6:c.*1589C>A ENSP00000440294.2:n.*1589C>A
ENST00000559133.5:c.1133C>A
NM_000138.4:c.5826C>A , LRG_778t1:c.5826C>A NP_000129.3:p.Cys1942Ter
NM_000138.5:c.5826C>A MANE Select NP_000129.3:p.Cys1942Ter
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