Canonical Allele Identifier: CA392318715

Gene: FBN1

Linked Data

• gnomAD v4: 15-48411090-T-C
• MyVariant Identifiers: chr15:g.48703287T>C (hg19) ; chr15:g.48411090T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411090T>C , CM000677.2:g.48411090T>C	GRCh38
NC_000015.9:g.48703287T>C , CM000677.1:g.48703287T>C	GRCh37
NC_000015.8:g.46490579T>C	NCBI36
NG_008805.2:g.239699A>G , LRG_778:g.239699A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1324A>G	ENSP00000453958.2:n.*1324A>G
ENST00000682158.1:n.1897A>G
ENST00000682170.1:n.2697A>G
ENST00000682767.1:n.1813A>G
ENST00000316623.10:c.8516A>G MANE Select	ENSP00000325527.5:p.Lys2839Arg
ENST00000316623.9:c.8516A>G	ENSP00000325527.5:p.Lys2839Arg
ENST00000559133.5:c.3885A>G
NM_000138.4:c.8516A>G , LRG_778t1:c.8516A>G	NP_000129.3:p.Lys2839Arg
NM_000138.5:c.8516A>G MANE Select	NP_000129.3:p.Lys2839Arg