Canonical Allele Identifier: CA392320168
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495605
ClinVar RCV Id: RCV000587482 RCV002298701
dbSNP Id: rs749196340
MyVariant Identifiers: chr15:g.48766499C>G (hg19) chr15:g.48474302C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474302C>G , CM000677.2:g.48474302C>G GRCh38
NC_000015.9:g.48766499C>G , CM000677.1:g.48766499C>G GRCh37
NC_000015.8:g.46553791C>G NCBI36
NG_008805.2:g.176487G>C , LRG_778:g.176487G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4163G>C ENSP00000453958.2:p.Arg1388Pro
ENST00000674301.2:c.4163G>C ENSP00000501333.2:p.Arg1388Pro
ENST00000684448.1:n.2837G>C
ENST00000316623.10:c.4163G>C MANE Select ENSP00000325527.5:p.Arg1388Pro
ENST00000316623.9:c.4163G>C ENSP00000325527.5:p.Arg1388Pro
ENST00000537463.6:c.835G>C ENSP00000440294.2:p.Ala279Pro
NM_000138.4:c.4163G>C , LRG_778t1:c.4163G>C NP_000129.3:p.Arg1388Pro
NM_000138.5:c.4163G>C MANE Select NP_000129.3:p.Arg1388Pro
Search 100 bp 5'
Search 100 bp 3'