Canonical Allele Identifier: CA392321661

Gene: FBN1

Linked Data

• ClinVar Variation Id: 618123
• ClinVar RCV Id: RCV000756146
• dbSNP Id: rs1309361114
• MyVariant Identifiers: chr15:g.48704937G>C (hg19) ; chr15:g.48412740G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412740G>C , CM000677.2:g.48412740G>C	GRCh38
NC_000015.9:g.48704937G>C , CM000677.1:g.48704937G>C	GRCh37
NC_000015.8:g.46492229G>C	NCBI36
NG_008805.2:g.238049C>G , LRG_778:g.238049C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*863C>G	ENSP00000453958.2:n.*863C>G
ENST00000674301.2:c.*1568C>G	ENSP00000501333.2:n.*1568C>G
ENST00000682158.1:n.1436C>G
ENST00000682170.1:n.2236C>G
ENST00000682767.1:n.1352C>G
ENST00000316623.10:c.8055C>G MANE Select	ENSP00000325527.5:p.His2685Gln
ENST00000674301.1:c.3221C>G	ENSP00000501333.1:n.3221C>G
ENST00000316623.9:c.8055C>G	ENSP00000325527.5:p.His2685Gln
ENST00000559133.5:c.3424C>G
ENST00000561429.1:n.310C>G
NM_000138.4:c.8055C>G , LRG_778t1:c.8055C>G	NP_000129.3:p.His2685Gln
NM_000138.5:c.8055C>G MANE Select	NP_000129.3:p.His2685Gln