Canonical Allele Identifier: CA10647080

Gene: FBN1

Linked Data

• ClinVar Variation Id: 316340
• ClinVar RCV Id: RCV000278523 ; RCV000284615 ; RCV000318453 ; RCV000339596 ; RCV000373063 ; RCV000379062 ; RCV000399830
• dbSNP Id: rs181099623
• gnomAD v2: 15-48701942-G-A
• gnomAD v3: 15-48409745-G-A
• gnomAD v4: 15-48409745-G-A
• MyVariant Identifiers: chr15:g.48701942G>A (hg19) ; chr15:g.48409745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409745G>A , CM000677.2:g.48409745G>A	GRCh38
NC_000015.9:g.48701942G>A , CM000677.1:g.48701942G>A	GRCh37
NC_000015.8:g.46489234G>A	NCBI36
NG_008805.2:g.241044C>T , LRG_778:g.241044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4042C>T
ENST00000682767.1:n.3158C>T
ENST00000316623.10:c.*1245C>T MANE Select	ENSP00000325527.5:n.*1245C>T
ENST00000316623.9:c.*1245C>T	ENSP00000325527.5:n.*1245C>T
NM_000138.4:c.*1245C>T , LRG_778t1:c.*1245C>T	NP_000129.3:n.*1245C>T
NM_000138.5:c.*1245C>T MANE Select	NP_000129.3:n.*1245C>T