Canonical Allele Identifier: CA012090
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161243
ClinVar RCV Id: RCV000148499 RCV000455446 RCV000771785 RCV001071912 RCV003328558
dbSNP Id: rs139058991
ExAC: 15:48807707 C / T
gnomAD v2: 15-48807707-C-T
gnomAD v3: 15-48515510-C-T
gnomAD v4: 15-48515510-C-T
MyVariant Identifiers: chr15:g.48807707C>T (hg19) chr15:g.48515510C>T (hg38)
PubMed: PMID:25637381
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48515510C>T , CM000677.2:g.48515510C>T GRCh38
NC_000015.9:g.48807707C>T , CM000677.1:g.48807707C>T GRCh37
NC_000015.8:g.46594999C>T NCBI36
NG_008805.2:g.135279G>A , LRG_778:g.135279G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1345G>A ENSP00000453958.2:p.Val449Ile
ENST00000674301.2:c.1345G>A ENSP00000501333.2:p.Val449Ile
ENST00000684448.1:n.19G>A
ENST00000316623.10:c.1345G>A MANE Select ENSP00000325527.5:p.Val449Ile
ENST00000316623.9:c.1345G>A ENSP00000325527.5:p.Val449Ile
ENST00000537463.6:c.636+22201G>A ENSP00000440294.2:n.636+22201G>A
NM_000138.4:c.1345G>A , LRG_778t1:c.1345G>A NP_000129.3:p.Val449Ile
NM_000138.5:c.1345G>A MANE Select NP_000129.3:p.Val449Ile
Search 100 bp 5'
Search 100 bp 3'