Canonical Allele Identifier: CA16614644
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406342
ClinVar RCV Id: RCV000474273 RCV001377303
dbSNP Id: rs1060501070
MyVariant Identifiers: chr15:g.48755296C>T (hg19) chr15:g.48463099C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48463099C>T , CM000677.2:g.48463099C>T GRCh38
NC_000015.9:g.48755296C>T , CM000677.1:g.48755296C>T GRCh37
NC_000015.8:g.46542588C>T NCBI36
NG_008805.2:g.187690G>A , LRG_778:g.187690G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.5207G>A ENSP00000453958.2:p.Cys1736Tyr
ENST00000674301.2:c.5207G>A ENSP00000501333.2:p.Cys1736Tyr
ENST00000684448.1:n.3881G>A
ENST00000316623.10:c.5207G>A MANE Select ENSP00000325527.5:p.Cys1736Tyr
ENST00000674301.1:c.206G>A ENSP00000501333.1:p.Cys69Tyr
ENST00000316623.9:c.5207G>A ENSP00000325527.5:p.Cys1736Tyr
ENST00000537463.6:c.*970G>A ENSP00000440294.2:n.*970G>A
ENST00000559133.5:c.514G>A
NM_000138.4:c.5207G>A , LRG_778t1:c.5207G>A NP_000129.3:p.Cys1736Tyr
NM_000138.5:c.5207G>A MANE Select NP_000129.3:p.Cys1736Tyr
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