Canonical Allele Identifier: CA10642079

Gene: FBN1

Linked Data

• ClinVar Variation Id: 316323
• ClinVar RCV Id: RCV000299938 ; RCV000307266 ; RCV000312963 ; RCV000338538 ; RCV000370096 ; RCV000405412 ; RCV000407356
• dbSNP Id: rs557301792
• gnomAD v2: 15-48701467-G-A
• gnomAD v3: 15-48409270-G-A
• gnomAD v4: 15-48409270-G-A
• MyVariant Identifiers: chr15:g.48701467G>A (hg19) ; chr15:g.48409270G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409270G>A , CM000677.2:g.48409270G>A	GRCh38
NC_000015.9:g.48701467G>A , CM000677.1:g.48701467G>A	GRCh37
NC_000015.8:g.46488759G>A	NCBI36
NG_008805.2:g.241519C>T , LRG_778:g.241519C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682170.1:n.4517C>T
ENST00000682767.1:n.3633C>T
ENST00000316623.10:c.*1720C>T MANE Select	ENSP00000325527.5:n.*1720C>T
ENST00000316623.9:c.*1720C>T	ENSP00000325527.5:n.*1720C>T
NM_000138.4:c.*1720C>T , LRG_778t1:c.*1720C>T	NP_000129.3:n.*1720C>T
NM_000138.5:c.*1720C>T MANE Select	NP_000129.3:n.*1720C>T