Canonical Allele Identifier: CA392320165

Gene: FBN1

Linked Data

• dbSNP Id: rs1463355359
• gnomAD v2: 15-48703560-T-C
• gnomAD v4: 15-48411363-T-C
• MyVariant Identifiers: chr15:g.48703560T>C (hg19) ; chr15:g.48411363T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411363T>C , CM000677.2:g.48411363T>C	GRCh38
NC_000015.9:g.48703560T>C , CM000677.1:g.48703560T>C	GRCh37
NC_000015.8:g.46490852T>C	NCBI36
NG_008805.2:g.239426A>G , LRG_778:g.239426A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1051A>G	ENSP00000453958.2:n.*1051A>G
ENST00000674301.2:c.*1756A>G	ENSP00000501333.2:n.*1756A>G
ENST00000682158.1:n.1624A>G
ENST00000682170.1:n.2424A>G
ENST00000682767.1:n.1540A>G
ENST00000316623.10:c.8243A>G MANE Select	ENSP00000325527.5:p.Glu2748Gly
ENST00000674301.1:c.3409A>G	ENSP00000501333.1:n.3409A>G
ENST00000316623.9:c.8243A>G	ENSP00000325527.5:p.Glu2748Gly
ENST00000559133.5:c.3612A>G
ENST00000561429.1:n.498A>G
NM_000138.4:c.8243A>G , LRG_778t1:c.8243A>G	NP_000129.3:p.Glu2748Gly
NM_000138.5:c.8243A>G MANE Select	NP_000129.3:p.Glu2748Gly