Canonical Allele Identifier: CA10636127

Gene: FBN1

Linked Data

• ClinVar Variation Id: 316320
• ClinVar RCV Id: RCV000290556 ; RCV000303126 ; RCV000347450 ; RCV000344396 ; RCV000360170 ; RCV000391617 ; RCV000403156
• dbSNP Id: rs534577080
• gnomAD v2: 15-48701238-A-G
• gnomAD v3: 15-48409041-A-G
• gnomAD v4: 15-48409041-A-G
• MyVariant Identifiers: chr15:g.48701238A>G (hg19) ; chr15:g.48409041A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409041A>G , CM000677.2:g.48409041A>G	GRCh38
NC_000015.9:g.48701238A>G , CM000677.1:g.48701238A>G	GRCh37
NC_000015.8:g.46488530A>G	NCBI36
NG_008805.2:g.241748T>C , LRG_778:g.241748T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4746T>C
ENST00000682767.1:n.3862T>C
ENST00000316623.10:c.*1949T>C MANE Select	ENSP00000325527.5:n.*1949T>C
ENST00000316623.9:c.*1949T>C	ENSP00000325527.5:n.*1949T>C
NM_000138.4:c.*1949T>C , LRG_778t1:c.*1949T>C	NP_000129.3:n.*1949T>C
NM_000138.5:c.*1949T>C MANE Select	NP_000129.3:n.*1949T>C