Canonical Allele Identifier: CA392320209

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2057026
• ClinVar RCV Id: RCV002941887
• dbSNP Id: rs1265301698
• MyVariant Identifiers: chr15:g.48703570A>C (hg19) ; chr15:g.48411373A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411373A>C , CM000677.2:g.48411373A>C	GRCh38
NC_000015.9:g.48703570A>C , CM000677.1:g.48703570A>C	GRCh37
NC_000015.8:g.46490862A>C	NCBI36
NG_008805.2:g.239416T>G , LRG_778:g.239416T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1041T>G	ENSP00000453958.2:n.*1041T>G
ENST00000674301.2:c.*1746T>G	ENSP00000501333.2:n.*1746T>G
ENST00000682158.1:n.1614T>G
ENST00000682170.1:n.2414T>G
ENST00000682767.1:n.1530T>G
ENST00000316623.10:c.8233T>G MANE Select	ENSP00000325527.5:p.Ser2745Ala
ENST00000674301.1:c.3399T>G	ENSP00000501333.1:n.3399T>G
ENST00000316623.9:c.8233T>G	ENSP00000325527.5:p.Ser2745Ala
ENST00000559133.5:c.3602T>G
ENST00000561429.1:n.488T>G
NM_000138.4:c.8233T>G , LRG_778t1:c.8233T>G	NP_000129.3:p.Ser2745Ala
NM_000138.5:c.8233T>G MANE Select	NP_000129.3:p.Ser2745Ala