Canonical Allele Identifier: CA016924
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200100
ClinVar RCV Id: RCV000695545 RCV000663920 RCV003528148 RCV000781372
dbSNP Id: rs794728262
gnomAD v4: 15-48427768-G-A
MyVariant Identifiers: chr15:g.48719965G>A (hg19) chr15:g.48427768G>A (hg38)
ERepo: CA016924/MONDO:0007947/022
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48427768G>A , CM000677.2:g.48427768G>A GRCh38
NC_000015.9:g.48719965G>A , CM000677.1:g.48719965G>A GRCh37
NC_000015.8:g.46507257G>A NCBI36
NG_008805.2:g.223021C>T , LRG_778:g.223021C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.7065C>T ENSP00000453958.2:p.Ile2355=
ENST00000674301.2:c.*516C>T ENSP00000501333.2:n.*516C>T
ENST00000682170.1:n.1184C>T
ENST00000682767.1:n.300C>T
ENST00000316623.10:c.7003C>T MANE Select ENSP00000325527.5:p.Arg2335Trp
ENST00000674301.1:c.2169C>T ENSP00000501333.1:n.2169C>T
ENST00000316623.9:c.7003C>T ENSP00000325527.5:p.Arg2335Trp
ENST00000559133.5:c.2372C>T
NM_000138.4:c.7003C>T , LRG_778t1:c.7003C>T NP_000129.3:p.Arg2335Trp
NM_000138.5:c.7003C>T MANE Select NP_000129.3:p.Arg2335Trp
Search 100 bp 5'
Search 100 bp 3'