Canonical Allele Identifier: CA016223

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200073
• ClinVar RCV Id: RCV001078729 ; RCV001263407 ; RCV001526943 ; RCV000756138 ; RCV001178611
• dbSNP Id: rs363802
• ExAC: 15:48734029 C / T
• gnomAD v2: 15-48734029-C-T
• gnomAD v3: 15-48441832-C-T
• gnomAD v4: 15-48441832-C-T
• MyVariant Identifiers: chr15:g.48734029C>T (hg19) ; chr15:g.48441832C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441832C>T , CM000677.2:g.48441832C>T	GRCh38
NC_000015.9:g.48734029C>T , CM000677.1:g.48734029C>T	GRCh37
NC_000015.8:g.46521321C>T	NCBI36
NG_008805.2:g.208957G>A , LRG_778:g.208957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6052G>A	ENSP00000453958.2:p.Val2018Ile
ENST00000674301.2:c.6052G>A	ENSP00000501333.2:p.Val2018Ile
ENST00000316623.10:c.6052G>A MANE Select	ENSP00000325527.5:p.Val2018Ile
ENST00000674301.1:c.1051G>A	ENSP00000501333.1:p.Val351Ile
ENST00000316623.9:c.6052G>A	ENSP00000325527.5:p.Val2018Ile
ENST00000537463.6:c.*1815G>A	ENSP00000440294.2:n.*1815G>A
ENST00000559133.5:c.1359G>A
ENST00000560820.1:n.172G>A
NM_000138.4:c.6052G>A , LRG_778t1:c.6052G>A	NP_000129.3:p.Val2018Ile
NM_000138.5:c.6052G>A MANE Select	NP_000129.3:p.Val2018Ile