Canonical Allele Identifier: CA059955
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 659948
ClinVar RCV Id: RCV000817044 RCV001118377 RCV001118378 RCV001118379 RCV001118380 RCV001119911 RCV001119912
dbSNP Id: rs781352764
ExAC: 15:48703447 T / C
gnomAD v2: 15-48703447-T-C
gnomAD v4: 15-48411250-T-C
MyVariant Identifiers: chr15:g.48703447T>C (hg19) chr15:g.48411250T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411250T>C , CM000677.2:g.48411250T>C GRCh38
NC_000015.9:g.48703447T>C , CM000677.1:g.48703447T>C GRCh37
NC_000015.8:g.46490739T>C NCBI36
NG_008805.2:g.239539A>G , LRG_778:g.239539A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*1164A>G ENSP00000453958.2:n.*1164A>G
ENST00000674301.2:c.*1869A>G ENSP00000501333.2:n.*1869A>G
ENST00000682158.1:n.1737A>G
ENST00000682170.1:n.2537A>G
ENST00000682767.1:n.1653A>G
ENST00000316623.10:c.8356A>G MANE Select ENSP00000325527.5:p.Thr2786Ala
ENST00000674301.1:c.3522A>G ENSP00000501333.1:n.3522A>G
ENST00000316623.9:c.8356A>G ENSP00000325527.5:p.Thr2786Ala
ENST00000559133.5:c.3725A>G
ENST00000561429.1:n.611A>G
NM_000138.4:c.8356A>G , LRG_778t1:c.8356A>G NP_000129.3:p.Thr2786Ala
NM_000138.5:c.8356A>G MANE Select NP_000129.3:p.Thr2786Ala
Search 100 bp 5'
Search 100 bp 3'