Canonical Allele Identifier: CA392318437
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 662665
ClinVar RCV Id: RCV000820363
dbSNP Id: rs1060501028
gnomAD v4: 15-48411015-A-G
MyVariant Identifiers: chr15:g.48703212A>G (hg19) chr15:g.48411015A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411015A>G , CM000677.2:g.48411015A>G GRCh38
NC_000015.9:g.48703212A>G , CM000677.1:g.48703212A>G GRCh37
NC_000015.8:g.46490504A>G NCBI36
NG_008805.2:g.239774T>C , LRG_778:g.239774T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1399T>C ENSP00000453958.2:n.*1399T>C
ENST00000682158.1:n.1972T>C
ENST00000682170.1:n.2772T>C
ENST00000682767.1:n.1888T>C
ENST00000316623.10:c.8591T>C MANE Select ENSP00000325527.5:p.Met2864Thr
ENST00000316623.9:c.8591T>C ENSP00000325527.5:p.Met2864Thr
ENST00000559133.5:c.3960T>C
NM_000138.4:c.8591T>C , LRG_778t1:c.8591T>C NP_000129.3:p.Met2864Thr
NM_000138.5:c.8591T>C MANE Select NP_000129.3:p.Met2864Thr
Search 100 bp 5'
Search 100 bp 3'