Canonical Allele Identifier: CA043561

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519753
• ClinVar RCV Id: RCV001189729 ; RCV001347916 ; RCV004002723 ; RCV004525987
• dbSNP Id: rs766162654
• ExAC: 15:48812886 C / T
• gnomAD v2: 15-48812886-C-T
• gnomAD v3: 15-48520689-C-T
• gnomAD v4: 15-48520689-C-T
• MyVariant Identifiers: chr15:g.48812886C>T (hg19) ; chr15:g.48520689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520689C>T , CM000677.2:g.48520689C>T	GRCh38
NC_000015.9:g.48812886C>T , CM000677.1:g.48812886C>T	GRCh37
NC_000015.8:g.46600178C>T	NCBI36
NG_008805.2:g.130100G>A , LRG_778:g.130100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1117G>A	ENSP00000453958.2:p.Ala373Thr
ENST00000674301.2:c.1117G>A	ENSP00000501333.2:p.Ala373Thr
ENST00000316623.10:c.1117G>A MANE Select	ENSP00000325527.5:p.Ala373Thr
ENST00000316623.9:c.1117G>A	ENSP00000325527.5:p.Ala373Thr
ENST00000537463.6:c.636+17022G>A	ENSP00000440294.2:n.636+17022G>A
NM_000138.4:c.1117G>A , LRG_778t1:c.1117G>A	NP_000129.3:p.Ala373Thr
NM_000138.5:c.1117G>A MANE Select	NP_000129.3:p.Ala373Thr