Canonical Allele Identifier: CA392320188

Gene: FBN1

Linked Data

• gnomAD v4: 15-48411368-C-G
• MyVariant Identifiers: chr15:g.48703565C>G (hg19) ; chr15:g.48411368C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411368C>G , CM000677.2:g.48411368C>G	GRCh38
NC_000015.9:g.48703565C>G , CM000677.1:g.48703565C>G	GRCh37
NC_000015.8:g.46490857C>G	NCBI36
NG_008805.2:g.239421G>C , LRG_778:g.239421G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1046G>C	ENSP00000453958.2:n.*1046G>C
ENST00000674301.2:c.*1751G>C	ENSP00000501333.2:n.*1751G>C
ENST00000682158.1:n.1619G>C
ENST00000682170.1:n.2419G>C
ENST00000682767.1:n.1535G>C
ENST00000316623.10:c.8238G>C MANE Select	ENSP00000325527.5:p.Glu2746Asp
ENST00000674301.1:c.3404G>C	ENSP00000501333.1:n.3404G>C
ENST00000316623.9:c.8238G>C	ENSP00000325527.5:p.Glu2746Asp
ENST00000559133.5:c.3607G>C
ENST00000561429.1:n.493G>C
NM_000138.4:c.8238G>C , LRG_778t1:c.8238G>C	NP_000129.3:p.Glu2746Asp
NM_000138.5:c.8238G>C MANE Select	NP_000129.3:p.Glu2746Asp