Canonical Allele Identifier: CA015110

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36075
• ClinVar RCV Id: RCV000029737 ; RCV000507229 ; RCV000524498 ; RCV000429823 ; RCV002326689 ; RCV000768217
• dbSNP Id: rs193922204
• gnomAD v2: 15-48760739-C-T
• gnomAD v3: 15-48468542-C-T
• gnomAD v4: 15-48468542-C-T
• MyVariant Identifiers: chr15:g.48760739C>T (hg19) ; chr15:g.48468542C>T (hg38)
• PubMed: PMID:11700157 ; PMID:18087243 ; PMID:19293843

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468542C>T , CM000677.2:g.48468542C>T	GRCh38
NC_000015.9:g.48760739C>T , CM000677.1:g.48760739C>T	GRCh37
NC_000015.8:g.46548031C>T	NCBI36
NG_008805.2:g.182247G>A , LRG_778:g.182247G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4460-8G>A	ENSP00000453958.2:n.4460-8G>A
ENST00000674301.2:c.4460-8G>A	ENSP00000501333.2:n.4460-8G>A
ENST00000684448.1:n.3134-8G>A
ENST00000316623.10:c.4460-8G>A MANE Select	ENSP00000325527.5:n.4460-8G>A
ENST00000316623.9:c.4460-8G>A	ENSP00000325527.5:n.4460-8G>A
ENST00000537463.6:c.*223-8G>A	ENSP00000440294.2:n.*223-8G>A
NM_000138.4:c.4460-8G>A , LRG_778t1:c.4460-8G>A	NP_000129.3:n.4460-8G>A
NM_000138.5:c.4460-8G>A MANE Select	NP_000129.3:n.4460-8G>A