Canonical Allele Identifier: CA270059139
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2078085
ClinVar RCV Id: RCV002988451 RCV004007741 RCV004065183
dbSNP Id: rs930004823
gnomAD v2: 15-48903013-C-A
gnomAD v4: 15-48610816-C-A
MyVariant Identifiers: chr15:g.48903013C>A (hg19) chr15:g.48610816C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48610816C>A , CM000677.2:g.48610816C>A GRCh38
NC_000015.9:g.48903013C>A , CM000677.1:g.48903013C>A GRCh37
NC_000015.8:g.46690305C>A NCBI36
NG_008805.2:g.39973G>T , LRG_778:g.39973G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.258G>T ENSP00000453958.2:p.Arg86=
ENST00000674301.2:c.258G>T ENSP00000501333.2:p.Arg86=
ENST00000316623.10:c.258G>T MANE Select ENSP00000325527.5:p.Arg86=
ENST00000316623.9:c.258G>T ENSP00000325527.5:p.Arg86=
ENST00000537463.6:c.258G>T ENSP00000440294.2:p.Arg86=
NM_000138.4:c.258G>T , LRG_778t1:c.258G>T NP_000129.3:p.Arg86=
NM_000138.5:c.258G>T MANE Select NP_000129.3:p.Arg86=
Search 100 bp 5'
Search 100 bp 3'