Canonical Allele Identifier: CA392340014
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1699701
ClinVar RCV Id: RCV002273558
dbSNP Id: rs2141249167
MyVariant Identifiers: chr15:g.48737617C>T (hg19) chr15:g.48445420C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445420C>T , CM000677.2:g.48445420C>T GRCh38
NC_000015.9:g.48737617C>T , CM000677.1:g.48737617C>T GRCh37
NC_000015.8:g.46524909C>T NCBI36
NG_008805.2:g.205369G>A , LRG_778:g.205369G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5873G>A ENSP00000453958.2:p.Cys1958Tyr
ENST00000674301.2:c.5873G>A ENSP00000501333.2:p.Cys1958Tyr
ENST00000684448.1:n.4547G>A
ENST00000316623.10:c.5873G>A MANE Select ENSP00000325527.5:p.Cys1958Tyr
ENST00000674301.1:c.872G>A ENSP00000501333.1:p.Cys291Tyr
ENST00000316623.9:c.5873G>A ENSP00000325527.5:p.Cys1958Tyr
ENST00000537463.6:c.*1636G>A ENSP00000440294.2:n.*1636G>A
ENST00000559133.5:c.1180G>A
NM_000138.4:c.5873G>A , LRG_778t1:c.5873G>A NP_000129.3:p.Cys1958Tyr
NM_000138.5:c.5873G>A MANE Select NP_000129.3:p.Cys1958Tyr
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