Canonical Allele Identifier: CA392318753

Gene: FBN1

Linked Data

• gnomAD v4: 15-48411099-A-C
• MyVariant Identifiers: chr15:g.48703296A>C (hg19) ; chr15:g.48411099A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411099A>C , CM000677.2:g.48411099A>C	GRCh38
NC_000015.9:g.48703296A>C , CM000677.1:g.48703296A>C	GRCh37
NC_000015.8:g.46490588A>C	NCBI36
NG_008805.2:g.239690T>G , LRG_778:g.239690T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1315T>G	ENSP00000453958.2:n.*1315T>G
ENST00000674301.2:c.*2020T>G	ENSP00000501333.2:n.*2020T>G
ENST00000682158.1:n.1888T>G
ENST00000682170.1:n.2688T>G
ENST00000682767.1:n.1804T>G
ENST00000316623.10:c.8507T>G MANE Select	ENSP00000325527.5:p.Leu2836Arg
ENST00000674301.1:c.3673T>G	ENSP00000501333.1:n.3673T>G
ENST00000316623.9:c.8507T>G	ENSP00000325527.5:p.Leu2836Arg
ENST00000559133.5:c.3876T>G
NM_000138.4:c.8507T>G , LRG_778t1:c.8507T>G	NP_000129.3:p.Leu2836Arg
NM_000138.5:c.8507T>G MANE Select	NP_000129.3:p.Leu2836Arg