Canonical Allele Identifier: CA392327904

Gene: FBN1

Linked Data

• ClinVar Variation Id: 926584
• ClinVar RCV Id: RCV001189262
• dbSNP Id: rs2042971724
• MyVariant Identifiers: chr15:g.48717645G>C (hg19) ; chr15:g.48425448G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425448G>C , CM000677.2:g.48425448G>C	GRCh38
NC_000015.9:g.48717645G>C , CM000677.1:g.48717645G>C	GRCh37
NC_000015.8:g.46504937G>C	NCBI36
NG_008805.2:g.225341C>G , LRG_778:g.225341C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*182C>G	ENSP00000453958.2:n.*182C>G
ENST00000674301.2:c.*887C>G	ENSP00000501333.2:n.*887C>G
ENST00000682170.1:n.1555C>G
ENST00000682767.1:n.671C>G
ENST00000316623.10:c.7374C>G MANE Select	ENSP00000325527.5:p.Ile2458Met
ENST00000674301.1:c.2540C>G	ENSP00000501333.1:n.2540C>G
ENST00000316623.9:c.7374C>G	ENSP00000325527.5:p.Ile2458Met
ENST00000559133.5:c.2743C>G
NM_000138.4:c.7374C>G , LRG_778t1:c.7374C>G	NP_000129.3:p.Ile2458Met
NM_000138.5:c.7374C>G MANE Select	NP_000129.3:p.Ile2458Met