Canonical Allele Identifier: CA016976

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36111
• ClinVar RCV Id: RCV000029773 ; RCV000181589 ; RCV000757279 ; RCV001087538 ; RCV001183241 ; RCV004541022
• dbSNP Id: rs140537304
• ExAC: 15:48719896 C / T
• gnomAD v2: 15-48719896-C-T
• gnomAD v3: 15-48427699-C-T
• gnomAD v4: 15-48427699-C-T
• COSMIC: COSM962366
• MyVariant Identifiers: chr15:g.48719896C>T (hg19) ; chr15:g.48427699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427699C>T , CM000677.2:g.48427699C>T	GRCh38
NC_000015.9:g.48719896C>T , CM000677.1:g.48719896C>T	GRCh37
NC_000015.8:g.46507188C>T	NCBI36
NG_008805.2:g.223090G>A , LRG_778:g.223090G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.7134G>A	ENSP00000453958.2:p.Pro2378=
ENST00000674301.2:c.*585G>A	ENSP00000501333.2:n.*585G>A
ENST00000682170.1:n.1253G>A
ENST00000682767.1:n.369G>A
ENST00000316623.10:c.7072G>A MANE Select	ENSP00000325527.5:p.Val2358Ile
ENST00000674301.1:c.2238G>A	ENSP00000501333.1:n.2238G>A
ENST00000316623.9:c.7072G>A	ENSP00000325527.5:p.Val2358Ile
ENST00000559133.5:c.2441G>A
NM_000138.4:c.7072G>A , LRG_778t1:c.7072G>A	NP_000129.3:p.Val2358Ile
NM_000138.5:c.7072G>A MANE Select	NP_000129.3:p.Val2358Ile