Canonical Allele Identifier: CA16614395

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406366
• ClinVar RCV Id: RCV000472916
• dbSNP Id: rs1060501093
• MyVariant Identifiers: chr15:g.48717688T>C (hg19) ; chr15:g.48425491T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425491T>C , CM000677.2:g.48425491T>C	GRCh38
NC_000015.9:g.48717688T>C , CM000677.1:g.48717688T>C	GRCh37
NC_000015.8:g.46504980T>C	NCBI36
NG_008805.2:g.225298A>G , LRG_778:g.225298A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*139A>G	ENSP00000453958.2:n.*139A>G
ENST00000674301.2:c.*844A>G	ENSP00000501333.2:n.*844A>G
ENST00000682170.1:n.1512A>G
ENST00000682767.1:n.628A>G
ENST00000316623.10:c.7331A>G MANE Select	ENSP00000325527.5:p.Asp2444Gly
ENST00000674301.1:c.2497A>G	ENSP00000501333.1:n.2497A>G
ENST00000316623.9:c.7331A>G	ENSP00000325527.5:p.Asp2444Gly
ENST00000559133.5:c.2700A>G
NM_000138.4:c.7331A>G , LRG_778t1:c.7331A>G	NP_000129.3:p.Asp2444Gly
NM_000138.5:c.7331A>G MANE Select	NP_000129.3:p.Asp2444Gly