Canonical Allele Identifier: CA10642086

Gene: FBN1

Linked Data

• ClinVar Variation Id: 316337
• ClinVar RCV Id: RCV000269334 ; RCV000273266 ; RCV000293993 ; RCV000330382 ; RCV000328336 ; RCV000382883 ; RCV000388211
• dbSNP Id: rs569152308
• gnomAD v3: 15-48409665-A-G
• gnomAD v4: 15-48409665-A-G
• MyVariant Identifiers: chr15:g.48701862A>G (hg19) ; chr15:g.48409665A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409665A>G , CM000677.2:g.48409665A>G	GRCh38
NC_000015.9:g.48701862A>G , CM000677.1:g.48701862A>G	GRCh37
NC_000015.8:g.46489154A>G	NCBI36
NG_008805.2:g.241124T>C , LRG_778:g.241124T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4122T>C
ENST00000682767.1:n.3238T>C
ENST00000316623.10:c.*1325T>C MANE Select	ENSP00000325527.5:n.*1325T>C
ENST00000316623.9:c.*1325T>C	ENSP00000325527.5:n.*1325T>C
NM_000138.4:c.*1325T>C , LRG_778t1:c.*1325T>C	NP_000129.3:n.*1325T>C
NM_000138.5:c.*1325T>C MANE Select	NP_000129.3:n.*1325T>C