Canonical Allele Identifier: CA012192

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42284
• ClinVar RCV Id: RCV000035117 ; RCV000181432 ; RCV000251716 ; RCV000515263 ; RCV000631905 ; RCV003226174
• dbSNP Id: rs397515757
• gnomAD v2: 15-48807579-C-T
• gnomAD v4: 15-48515382-C-T
• MyVariant Identifiers: chr15:g.48807579C>T (hg19) ; chr15:g.48515382C>T (hg38)
• PubMed: PMID:10464652 ; PMID:11933199 ; PMID:17627385 ; PMID:17657824 ; PMID:21542060 ; PMID:21907952 ; PMID:24161884 ; PMID:25525159 ; PMID:25907466

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48515382C>T , CM000677.2:g.48515382C>T	GRCh38
NC_000015.9:g.48807579C>T , CM000677.1:g.48807579C>T	GRCh37
NC_000015.8:g.46594871C>T	NCBI36
NG_008805.2:g.135407G>A , LRG_778:g.135407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1468+5G>A	ENSP00000453958.2:n.1468+5G>A
ENST00000674301.2:c.1468+5G>A	ENSP00000501333.2:n.1468+5G>A
ENST00000684448.1:n.142+5G>A
ENST00000316623.10:c.1468+5G>A MANE Select	ENSP00000325527.5:n.1468+5G>A
ENST00000316623.9:c.1468+5G>A	ENSP00000325527.5:n.1468+5G>A
ENST00000537463.6:c.636+22329G>A	ENSP00000440294.2:n.636+22329G>A
NM_000138.4:c.1468+5G>A , LRG_778t1:c.1468+5G>A	NP_000129.3:n.1468+5G>A
NM_000138.5:c.1468+5G>A MANE Select	NP_000129.3:n.1468+5G>A