Canonical Allele Identifier: CA058647
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 923954
ClinVar RCV Id: RCV001185037 RCV001299487 RCV001576296 RCV002469349 RCV002491543 RCV004008508
dbSNP Id: rs377272529
ExAC: 15:48714264 A / C
gnomAD v2: 15-48714264-A-C
gnomAD v3: 15-48422067-A-C
gnomAD v4: 15-48422067-A-C
MyVariant Identifiers: chr15:g.48714264A>C (hg19) chr15:g.48422067A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48422067A>C , CM000677.2:g.48422067A>C GRCh38
NC_000015.9:g.48714264A>C , CM000677.1:g.48714264A>C GRCh37
NC_000015.8:g.46501556A>C NCBI36
NG_008805.2:g.228722T>G , LRG_778:g.228722T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*263T>G ENSP00000453958.2:n.*263T>G
ENST00000674301.2:c.*968T>G ENSP00000501333.2:n.*968T>G
ENST00000682170.1:n.1636T>G
ENST00000682767.1:n.752T>G
ENST00000316623.10:c.7455T>G MANE Select ENSP00000325527.5:p.Asp2485Glu
ENST00000674301.1:c.2621T>G ENSP00000501333.1:n.2621T>G
ENST00000316623.9:c.7455T>G ENSP00000325527.5:p.Asp2485Glu
ENST00000559133.5:c.2824T>G
NM_000138.4:c.7455T>G , LRG_778t1:c.7455T>G NP_000129.3:p.Asp2485Glu
NM_000138.5:c.7455T>G MANE Select NP_000129.3:p.Asp2485Glu
Search 100 bp 5'
Search 100 bp 3'