Canonical Allele Identifier: CA392318436
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1935813
ClinVar RCV Id: RCV002657868 RCV004007520
dbSNP Id: rs1281410164
gnomAD v2: 15-48703211-C-T
gnomAD v4: 15-48411014-C-T
COSMIC: COSM3816221
MyVariant Identifiers: chr15:g.48703211C>T (hg19) chr15:g.48411014C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411014C>T , CM000677.2:g.48411014C>T GRCh38
NC_000015.9:g.48703211C>T , CM000677.1:g.48703211C>T GRCh37
NC_000015.8:g.46490503C>T NCBI36
NG_008805.2:g.239775G>A , LRG_778:g.239775G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1400G>A ENSP00000453958.2:n.*1400G>A
ENST00000682158.1:n.1973G>A
ENST00000682170.1:n.2773G>A
ENST00000682767.1:n.1889G>A
ENST00000316623.10:c.8592G>A MANE Select ENSP00000325527.5:p.Met2864Ile
ENST00000316623.9:c.8592G>A ENSP00000325527.5:p.Met2864Ile
ENST00000559133.5:c.3961G>A
NM_000138.4:c.8592G>A , LRG_778t1:c.8592G>A NP_000129.3:p.Met2864Ile
NM_000138.5:c.8592G>A MANE Select NP_000129.3:p.Met2864Ile
Search 100 bp 5'
Search 100 bp 3'