Canonical Allele Identifier: CA017783

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42445
• ClinVar RCV Id: RCV000035291
• dbSNP Id: rs397515864
• MyVariant Identifiers: chr15:g.48703320G>C (hg19) ; chr15:g.48411123G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411123G>C , CM000677.2:g.48411123G>C	GRCh38
NC_000015.9:g.48703320G>C , CM000677.1:g.48703320G>C	GRCh37
NC_000015.8:g.46490612G>C	NCBI36
NG_008805.2:g.239666C>G , LRG_778:g.239666C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1291C>G	ENSP00000453958.2:n.*1291C>G
ENST00000674301.2:c.*1996C>G	ENSP00000501333.2:n.*1996C>G
ENST00000682158.1:n.1864C>G
ENST00000682170.1:n.2664C>G
ENST00000682767.1:n.1780C>G
ENST00000316623.10:c.8483C>G MANE Select	ENSP00000325527.5:p.Ser2828Ter
ENST00000674301.1:c.3649C>G	ENSP00000501333.1:n.3649C>G
ENST00000316623.9:c.8483C>G	ENSP00000325527.5:p.Ser2828Ter
ENST00000559133.5:c.3852C>G
NM_000138.4:c.8483C>G , LRG_778t1:c.8483C>G	NP_000129.3:p.Ser2828Ter
NM_000138.5:c.8483C>G MANE Select	NP_000129.3:p.Ser2828Ter