Canonical Allele Identifier: CA392320464
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 521833
ClinVar RCV Id: RCV000781366 RCV001179399 RCV003147524 RCV002532845 RCV002483751
dbSNP Id: rs187177496
gnomAD v2: 15-48766755-C-T
gnomAD v3: 15-48474558-C-T
gnomAD v4: 15-48474558-C-T
MyVariant Identifiers: chr15:g.48766755C>T (hg19) chr15:g.48474558C>T (hg38)
PubMed: PMID:25363768
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474558C>T , CM000677.2:g.48474558C>T GRCh38
NC_000015.9:g.48766755C>T , CM000677.1:g.48766755C>T GRCh37
NC_000015.8:g.46554047C>T NCBI36
NG_008805.2:g.176231G>A , LRG_778:g.176231G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4057G>A ENSP00000453958.2:p.Gly1353Arg
ENST00000674301.2:c.4057G>A ENSP00000501333.2:p.Gly1353Arg
ENST00000684448.1:n.2731G>A
ENST00000316623.10:c.4057G>A MANE Select ENSP00000325527.5:p.Gly1353Arg
ENST00000316623.9:c.4057G>A ENSP00000325527.5:p.Gly1353Arg
ENST00000537463.6:c.729G>A ENSP00000440294.2:p.Pro243=
NM_000138.4:c.4057G>A , LRG_778t1:c.4057G>A NP_000129.3:p.Gly1353Arg
NM_000138.5:c.4057G>A MANE Select NP_000129.3:p.Gly1353Arg
Search 100 bp 5'
Search 100 bp 3'