Canonical Allele Identifier: CA16606691
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379655
ClinVar RCV Id: RCV000424583 RCV002524849
dbSNP Id: rs1057520679
MyVariant Identifiers: chr15:g.48722945C>T (hg19) chr15:g.48430748C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48430748C>T , CM000677.2:g.48430748C>T GRCh38
NC_000015.9:g.48722945C>T , CM000677.1:g.48722945C>T GRCh37
NC_000015.8:g.46510237C>T NCBI36
NG_008805.2:g.220041G>A , LRG_778:g.220041G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6794G>A ENSP00000453958.2:p.Cys2265Tyr
ENST00000674301.2:c.*245G>A ENSP00000501333.2:n.*245G>A
ENST00000682170.1:n.403G>A
ENST00000316623.10:c.6794G>A MANE Select ENSP00000325527.5:p.Cys2265Tyr
ENST00000674301.1:c.1898G>A ENSP00000501333.1:n.1898G>A
ENST00000316623.9:c.6794G>A ENSP00000325527.5:p.Cys2265Tyr
ENST00000559133.5:c.2101G>A
ENST00000560720.1:n.81G>A
NM_000138.4:c.6794G>A , LRG_778t1:c.6794G>A NP_000129.3:p.Cys2265Tyr
NM_000138.5:c.6794G>A MANE Select NP_000129.3:p.Cys2265Tyr
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