Canonical Allele Identifier: CA16614635
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406369
ClinVar RCV Id: RCV000467032 RCV001381355
dbSNP Id: rs1060501095
MyVariant Identifiers: chr15:g.48733922G>T (hg19) chr15:g.48441725G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441725G>T , CM000677.2:g.48441725G>T GRCh38
NC_000015.9:g.48733922G>T , CM000677.1:g.48733922G>T GRCh37
NC_000015.8:g.46521214G>T NCBI36
NG_008805.2:g.209064C>A , LRG_778:g.209064C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6159C>A ENSP00000453958.2:p.Cys2053Ter
ENST00000674301.2:c.6159C>A ENSP00000501333.2:p.Cys2053Ter
ENST00000316623.10:c.6159C>A MANE Select ENSP00000325527.5:p.Cys2053Ter
ENST00000674301.1:c.1158C>A ENSP00000501333.1:p.Cys386Ter
ENST00000316623.9:c.6159C>A ENSP00000325527.5:p.Cys2053Ter
ENST00000537463.6:c.*1922C>A ENSP00000440294.2:n.*1922C>A
ENST00000559133.5:c.1466C>A
ENST00000560820.1:n.279C>A
NM_000138.4:c.6159C>A , LRG_778t1:c.6159C>A NP_000129.3:p.Cys2053Ter
NM_000138.5:c.6159C>A MANE Select NP_000129.3:p.Cys2053Ter
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