Canonical Allele Identifier: CA012090

Gene: FBN1

Linked Data

• ClinVar Variation Id: 161243
• ClinVar RCV Id: RCV000148499 ; RCV000455446 ; RCV000771785 ; RCV001071912 ; RCV003328558
• dbSNP Id: rs139058991
• ExAC: 15:48807707 C / T
• gnomAD v2: 15-48807707-C-T
• gnomAD v3: 15-48515510-C-T
• gnomAD v4: 15-48515510-C-T
• MyVariant Identifiers: chr15:g.48807707C>T (hg19) ; chr15:g.48515510C>T (hg38)
• PubMed: PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48515510C>T , CM000677.2:g.48515510C>T	GRCh38
NC_000015.9:g.48807707C>T , CM000677.1:g.48807707C>T	GRCh37
NC_000015.8:g.46594999C>T	NCBI36
NG_008805.2:g.135279G>A , LRG_778:g.135279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1345G>A	ENSP00000453958.2:p.Val449Ile
ENST00000674301.2:c.1345G>A	ENSP00000501333.2:p.Val449Ile
ENST00000684448.1:n.19G>A
ENST00000316623.10:c.1345G>A MANE Select	ENSP00000325527.5:p.Val449Ile
ENST00000316623.9:c.1345G>A	ENSP00000325527.5:p.Val449Ile
ENST00000537463.6:c.636+22201G>A	ENSP00000440294.2:n.636+22201G>A
NM_000138.4:c.1345G>A , LRG_778t1:c.1345G>A	NP_000129.3:p.Val449Ile
NM_000138.5:c.1345G>A MANE Select	NP_000129.3:p.Val449Ile