Canonical Allele Identifier: CA059646

Gene: FBN1

Linked Data

• ClinVar Variation Id: 264444
• ClinVar RCV Id: RCV000866199 ; RCV001189411 ; RCV003995729
• dbSNP Id: rs372105662
• ExAC: 15:48704862 G / A
• gnomAD v2: 15-48704862-G-A
• gnomAD v3: 15-48412665-G-A
• gnomAD v4: 15-48412665-G-A
• MyVariant Identifiers: chr15:g.48704862G>A (hg19) ; chr15:g.48412665G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412665G>A , CM000677.2:g.48412665G>A	GRCh38
NC_000015.9:g.48704862G>A , CM000677.1:g.48704862G>A	GRCh37
NC_000015.8:g.46492154G>A	NCBI36
NG_008805.2:g.238124C>T , LRG_778:g.238124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*938C>T	ENSP00000453958.2:n.*938C>T
ENST00000674301.2:c.*1643C>T	ENSP00000501333.2:n.*1643C>T
ENST00000682158.1:n.1511C>T
ENST00000682170.1:n.2311C>T
ENST00000682767.1:n.1427C>T
ENST00000316623.10:c.8130C>T MANE Select	ENSP00000325527.5:p.Leu2710=
ENST00000674301.1:c.3296C>T	ENSP00000501333.1:n.3296C>T
ENST00000316623.9:c.8130C>T	ENSP00000325527.5:p.Leu2710=
ENST00000559133.5:c.3499C>T
ENST00000561429.1:n.385C>T
NM_000138.4:c.8130C>T , LRG_778t1:c.8130C>T	NP_000129.3:p.Leu2710=
NM_000138.5:c.8130C>T MANE Select	NP_000129.3:p.Leu2710=