Canonical Allele Identifier: CA059919
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 316360
ClinVar RCV Id: RCV000304890 RCV000308744 RCV000314675 RCV000345706 RCV000368154 RCV000399142 RCV000399944 RCV000534883 RCV001083530 RCV002278421
dbSNP Id: rs112189340
ExAC: 15:48703493 G / A
gnomAD v2: 15-48703493-G-A
gnomAD v3: 15-48411296-G-A
gnomAD v4: 15-48411296-G-A
MyVariant Identifiers: chr15:g.48703493G>A (hg19) chr15:g.48411296G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411296G>A , CM000677.2:g.48411296G>A GRCh38
NC_000015.9:g.48703493G>A , CM000677.1:g.48703493G>A GRCh37
NC_000015.8:g.46490785G>A NCBI36
NG_008805.2:g.239493C>T , LRG_778:g.239493C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1118C>T ENSP00000453958.2:n.*1118C>T
ENST00000674301.2:c.*1823C>T ENSP00000501333.2:n.*1823C>T
ENST00000682158.1:n.1691C>T
ENST00000682170.1:n.2491C>T
ENST00000682767.1:n.1607C>T
ENST00000316623.10:c.8310C>T MANE Select ENSP00000325527.5:p.His2770=
ENST00000674301.1:c.3476C>T ENSP00000501333.1:n.3476C>T
ENST00000316623.9:c.8310C>T ENSP00000325527.5:p.His2770=
ENST00000559133.5:c.3679C>T
ENST00000561429.1:n.565C>T
NM_000138.4:c.8310C>T , LRG_778t1:c.8310C>T NP_000129.3:p.His2770=
NM_000138.5:c.8310C>T MANE Select NP_000129.3:p.His2770=
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