Canonical Allele Identifier: CA058786
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457263
ClinVar RCV Id: RCV000548881 RCV000611742 RCV000771857 RCV001115505 RCV001115506 RCV001116920 RCV001116921 RCV001116922 RCV001579851 RCV003900125
dbSNP Id: rs760425899
ExAC: 15:48714159 C / T
gnomAD v2: 15-48714159-C-T
gnomAD v3: 15-48421962-C-T
gnomAD v4: 15-48421962-C-T
MyVariant Identifiers: chr15:g.48714159C>T (hg19) chr15:g.48421962C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48421962C>T , CM000677.2:g.48421962C>T GRCh38
NC_000015.9:g.48714159C>T , CM000677.1:g.48714159C>T GRCh37
NC_000015.8:g.46501451C>T NCBI36
NG_008805.2:g.228827G>A , LRG_778:g.228827G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*368G>A ENSP00000453958.2:n.*368G>A
ENST00000674301.2:c.*1073G>A ENSP00000501333.2:n.*1073G>A
ENST00000682170.1:n.1741G>A
ENST00000682767.1:n.857G>A
ENST00000316623.10:c.7560G>A MANE Select ENSP00000325527.5:p.Thr2520=
ENST00000674301.1:c.2726G>A ENSP00000501333.1:n.2726G>A
ENST00000316623.9:c.7560G>A ENSP00000325527.5:p.Thr2520=
ENST00000559133.5:c.2929G>A
NM_000138.4:c.7560G>A , LRG_778t1:c.7560G>A NP_000129.3:p.Thr2520=
NM_000138.5:c.7560G>A MANE Select NP_000129.3:p.Thr2520=
Search 100 bp 5'
Search 100 bp 3'