Canonical Allele Identifier: CA017429

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200200
• ClinVar RCV Id: RCV000690617 ; RCV000505745
• dbSNP Id: rs794728338
• gnomAD v4: 15-48415710-A-T
• MyVariant Identifiers: chr15:g.48707907A>T (hg19) ; chr15:g.48415710A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415710A>T , CM000677.2:g.48415710A>T	GRCh38
NC_000015.9:g.48707907A>T , CM000677.1:g.48707907A>T	GRCh37
NC_000015.8:g.46495199A>T	NCBI36
NG_008805.2:g.235079T>A , LRG_778:g.235079T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*685T>A	ENSP00000453958.2:n.*685T>A
ENST00000674301.2:c.*1390T>A	ENSP00000501333.2:n.*1390T>A
ENST00000682158.1:n.1258T>A
ENST00000682170.1:n.2058T>A
ENST00000682767.1:n.1174T>A
ENST00000316623.10:c.7877T>A MANE Select	ENSP00000325527.5:p.Leu2626Gln
ENST00000674301.1:c.3043T>A	ENSP00000501333.1:n.3043T>A
ENST00000316623.9:c.7877T>A	ENSP00000325527.5:p.Leu2626Gln
ENST00000559133.5:c.3246T>A
ENST00000561429.1:n.132T>A
NM_000138.4:c.7877T>A , LRG_778t1:c.7877T>A	NP_000129.3:p.Leu2626Gln
NM_000138.5:c.7877T>A MANE Select	NP_000129.3:p.Leu2626Gln