Canonical Allele Identifier: CA392323111

Gene: FBN1

Linked Data

• ClinVar Variation Id: 926733
• ClinVar RCV Id: RCV001189539
• dbSNP Id: rs2042897958
• gnomAD v4: 15-48415669-C-T
• MyVariant Identifiers: chr15:g.48707866C>T (hg19) ; chr15:g.48415669C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415669C>T , CM000677.2:g.48415669C>T	GRCh38
NC_000015.9:g.48707866C>T , CM000677.1:g.48707866C>T	GRCh37
NC_000015.8:g.46495158C>T	NCBI36
NG_008805.2:g.235120G>A , LRG_778:g.235120G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*726G>A	ENSP00000453958.2:n.*726G>A
ENST00000674301.2:c.*1431G>A	ENSP00000501333.2:n.*1431G>A
ENST00000682158.1:n.1299G>A
ENST00000682170.1:n.2099G>A
ENST00000682767.1:n.1215G>A
ENST00000316623.10:c.7918G>A MANE Select	ENSP00000325527.5:p.Glu2640Lys
ENST00000674301.1:c.3084G>A	ENSP00000501333.1:n.3084G>A
ENST00000316623.9:c.7918G>A	ENSP00000325527.5:p.Glu2640Lys
ENST00000559133.5:c.3287G>A
ENST00000561429.1:n.173G>A
NM_000138.4:c.7918G>A , LRG_778t1:c.7918G>A	NP_000129.3:p.Glu2640Lys
NM_000138.5:c.7918G>A MANE Select	NP_000129.3:p.Glu2640Lys