Canonical Allele Identifier: CA392320218
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549211
ClinVar RCV Id: RCV000663698 RCV000821492
dbSNP Id: rs1555397658
MyVariant Identifiers: chr15:g.48766511A>G (hg19) chr15:g.48474314A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474314A>G , CM000677.2:g.48474314A>G GRCh38
NC_000015.9:g.48766511A>G , CM000677.1:g.48766511A>G GRCh37
NC_000015.8:g.46553803A>G NCBI36
NG_008805.2:g.176475T>C , LRG_778:g.176475T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4151T>C ENSP00000453958.2:p.Met1384Thr
ENST00000674301.2:c.4151T>C ENSP00000501333.2:p.Met1384Thr
ENST00000684448.1:n.2825T>C
ENST00000316623.10:c.4151T>C MANE Select ENSP00000325527.5:p.Met1384Thr
ENST00000316623.9:c.4151T>C ENSP00000325527.5:p.Met1384Thr
ENST00000537463.6:c.823T>C ENSP00000440294.2:p.Trp275Arg
NM_000138.4:c.4151T>C , LRG_778t1:c.4151T>C NP_000129.3:p.Met1384Thr
NM_000138.5:c.4151T>C MANE Select NP_000129.3:p.Met1384Thr
Search 100 bp 5'
Search 100 bp 3'