Canonical Allele Identifier: CA057654
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 727124
ClinVar RCV Id: RCV000901422 RCV001188778 RCV004003154
dbSNP Id: rs363831
ExAC: 15:48720553 G / A
gnomAD v2: 15-48720553-G-A
gnomAD v3: 15-48428356-G-A
gnomAD v4: 15-48428356-G-A
MyVariant Identifiers: chr15:g.48720553G>A (hg19) chr15:g.48428356G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428356G>A , CM000677.2:g.48428356G>A GRCh38
NC_000015.9:g.48720553G>A , CM000677.1:g.48720553G>A GRCh37
NC_000015.8:g.46507845G>A NCBI36
NG_008805.2:g.222433C>T , LRG_778:g.222433C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6987C>T ENSP00000453958.2:p.Asp2329=
ENST00000674301.2:c.*438C>T ENSP00000501333.2:n.*438C>T
ENST00000682170.1:n.596C>T
ENST00000682767.1:n.222C>T
ENST00000316623.10:c.6987C>T MANE Select ENSP00000325527.5:p.Asp2329=
ENST00000674301.1:c.2091C>T ENSP00000501333.1:n.2091C>T
ENST00000316623.9:c.6987C>T ENSP00000325527.5:p.Asp2329=
ENST00000559133.5:c.2294C>T
ENST00000560720.1:n.274C>T
NM_000138.4:c.6987C>T , LRG_778t1:c.6987C>T NP_000129.3:p.Asp2329=
NM_000138.5:c.6987C>T MANE Select NP_000129.3:p.Asp2329=
Search 100 bp 5'
Search 100 bp 3'