Canonical Allele Identifier: CA392318789
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1378991
ClinVar RCV Id: RCV001914746 RCV004009256
dbSNP Id: rs1284038548
gnomAD v2: 15-48703303-T-C
gnomAD v4: 15-48411106-T-C
COSMIC: COSM1373249
MyVariant Identifiers: chr15:g.48703303T>C (hg19) chr15:g.48411106T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411106T>C , CM000677.2:g.48411106T>C GRCh38
NC_000015.9:g.48703303T>C , CM000677.1:g.48703303T>C GRCh37
NC_000015.8:g.46490595T>C NCBI36
NG_008805.2:g.239683A>G , LRG_778:g.239683A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1308A>G ENSP00000453958.2:n.*1308A>G
ENST00000674301.2:c.*2013A>G ENSP00000501333.2:n.*2013A>G
ENST00000682158.1:n.1881A>G
ENST00000682170.1:n.2681A>G
ENST00000682767.1:n.1797A>G
ENST00000316623.10:c.8500A>G MANE Select ENSP00000325527.5:p.Thr2834Ala
ENST00000674301.1:c.3666A>G ENSP00000501333.1:n.3666A>G
ENST00000316623.9:c.8500A>G ENSP00000325527.5:p.Thr2834Ala
ENST00000559133.5:c.3869A>G
NM_000138.4:c.8500A>G , LRG_778t1:c.8500A>G NP_000129.3:p.Thr2834Ala
NM_000138.5:c.8500A>G MANE Select NP_000129.3:p.Thr2834Ala
Search 100 bp 5'
Search 100 bp 3'