Canonical Allele Identifier: CA016065

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42394
• ClinVar RCV Id: RCV000035236 ; RCV000181550 ; RCV000415118 ; RCV000684778 ; RCV000781375 ; RCV001170536 ; RCV002287351 ; RCV004534734
• dbSNP Id: rs193922219
• gnomAD v2: 15-48738898-C-T
• gnomAD v3: 15-48446701-C-T
• gnomAD v4: 15-48446701-C-T
• MyVariant Identifiers: chr15:g.48738898C>T (hg19) ; chr15:g.48446701C>T (hg38)
• PubMed: PMID:7611299 ; PMID:8894692 ; PMID:10533071 ; PMID:11700157 ; PMID:12402346 ; PMID:12938084 ; PMID:14695540 ; PMID:16222657 ; PMID:16835936 ; PMID:17657824 ; PMID:17663468 ; PMID:19159394 ; PMID:19293843 ; PMID:21542060 ; PMID:24161884

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446701C>T , CM000677.2:g.48446701C>T	GRCh38
NC_000015.9:g.48738898C>T , CM000677.1:g.48738898C>T	GRCh37
NC_000015.8:g.46526190C>T	NCBI36
NG_008805.2:g.204088G>A , LRG_778:g.204088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5788+5G>A	ENSP00000453958.2:n.5788+5G>A
ENST00000674301.2:c.5788+5G>A	ENSP00000501333.2:n.5788+5G>A
ENST00000684448.1:n.4462+5G>A
ENST00000316623.10:c.5788+5G>A MANE Select	ENSP00000325527.5:n.5788+5G>A
ENST00000674301.1:c.787+5G>A	ENSP00000501333.1:n.787+5G>A
ENST00000316623.9:c.5788+5G>A	ENSP00000325527.5:n.5788+5G>A
ENST00000537463.6:c.*1551+5G>A	ENSP00000440294.2:n.*1551+5G>A
ENST00000559133.5:c.1095+5G>A
NM_000138.4:c.5788+5G>A , LRG_778t1:c.5788+5G>A	NP_000129.3:n.5788+5G>A
NM_000138.5:c.5788+5G>A MANE Select	NP_000129.3:n.5788+5G>A