Canonical Allele Identifier: CA016350

Gene: FBN1

Linked Data

• ClinVar Variation Id: 180039
• ClinVar RCV Id: RCV000156842 ; RCV000530465 ; RCV000781370
• dbSNP Id: rs112989722
• MyVariant Identifiers: chr15:g.48729544G>C (hg19) ; chr15:g.48437347G>C (hg38)
• PubMed: PMID:9241263 ; PMID:17657824

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437347G>C , CM000677.2:g.48437347G>C	GRCh38
NC_000015.9:g.48729544G>C , CM000677.1:g.48729544G>C	GRCh37
NC_000015.8:g.46516836G>C	NCBI36
NG_008805.2:g.213442C>G , LRG_778:g.213442C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6354C>G	ENSP00000453958.2:p.Ile2118Met
ENST00000674301.2:c.6354C>G	ENSP00000501333.2:p.Ile2118Met
ENST00000316623.10:c.6354C>G MANE Select	ENSP00000325527.5:p.Ile2118Met
ENST00000674301.1:c.1353C>G	ENSP00000501333.1:p.Ile451Met
ENST00000316623.9:c.6354C>G	ENSP00000325527.5:p.Ile2118Met
ENST00000537463.6:c.*2117C>G	ENSP00000440294.2:n.*2117C>G
ENST00000559133.5:c.1661C>G
NM_000138.4:c.6354C>G , LRG_778t1:c.6354C>G	NP_000129.3:p.Ile2118Met
NM_000138.5:c.6354C>G MANE Select	NP_000129.3:p.Ile2118Met