Canonical Allele Identifier: CA392318735

Gene: FBN1

Linked Data

• gnomAD v4: 15-48411094-T-C
• MyVariant Identifiers: chr15:g.48703291T>C (hg19) ; chr15:g.48411094T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411094T>C , CM000677.2:g.48411094T>C	GRCh38
NC_000015.9:g.48703291T>C , CM000677.1:g.48703291T>C	GRCh37
NC_000015.8:g.46490583T>C	NCBI36
NG_008805.2:g.239695A>G , LRG_778:g.239695A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1320A>G	ENSP00000453958.2:n.*1320A>G
ENST00000674301.2:c.*2025A>G	ENSP00000501333.2:n.*2025A>G
ENST00000682158.1:n.1893A>G
ENST00000682170.1:n.2693A>G
ENST00000682767.1:n.1809A>G
ENST00000316623.10:c.8512A>G MANE Select	ENSP00000325527.5:p.Lys2838Glu
ENST00000674301.1:c.3678A>G	ENSP00000501333.1:n.3678A>G
ENST00000316623.9:c.8512A>G	ENSP00000325527.5:p.Lys2838Glu
ENST00000559133.5:c.3881A>G
NM_000138.4:c.8512A>G , LRG_778t1:c.8512A>G	NP_000129.3:p.Lys2838Glu
NM_000138.5:c.8512A>G MANE Select	NP_000129.3:p.Lys2838Glu