Canonical Allele Identifier: CA490023592
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 928111
ClinVar RCV Id: RCV001191767 RCV001503421
dbSNP Id: rs1028807052
gnomAD v2: 15-48789479-A-G
gnomAD v4: 15-48497282-A-G
MyVariant Identifiers: chr15:g.48789479A>G (hg19) chr15:g.48497282A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48497282A>G , CM000677.2:g.48497282A>G GRCh38
NC_000015.9:g.48789479A>G , CM000677.1:g.48789479A>G GRCh37
NC_000015.8:g.46576771A>G NCBI36
NG_008805.2:g.153507T>C , LRG_778:g.153507T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2277T>C ENSP00000453958.2:p.Thr759=
ENST00000674301.2:c.2277T>C ENSP00000501333.2:p.Thr759=
ENST00000684448.1:n.951T>C
ENST00000316623.10:c.2277T>C MANE Select ENSP00000325527.5:p.Thr759=
ENST00000316623.9:c.2277T>C ENSP00000325527.5:p.Thr759=
ENST00000537463.6:c.637-22632T>C ENSP00000440294.2:n.637-22632T>C
NM_000138.4:c.2277T>C , LRG_778t1:c.2277T>C NP_000129.3:p.Thr759=
NM_000138.5:c.2277T>C MANE Select NP_000129.3:p.Thr759=
Search 100 bp 5'
Search 100 bp 3'