Canonical Allele Identifier: CA392334778

Gene: FBN1

Linked Data

• ClinVar Variation Id: 915610
• ClinVar RCV Id: RCV001170529 ; RCV001873574
• dbSNP Id: rs2043050574
• MyVariant Identifiers: chr15:g.48726821A>C (hg19) ; chr15:g.48434624A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434624A>C , CM000677.2:g.48434624A>C	GRCh38
NC_000015.9:g.48726821A>C , CM000677.1:g.48726821A>C	GRCh37
NC_000015.8:g.46514113A>C	NCBI36
NG_008805.2:g.216165T>G , LRG_778:g.216165T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6586T>G	ENSP00000453958.2:p.Phe2196Val
ENST00000674301.2:c.6586T>G	ENSP00000501333.2:p.Phe2196Val
ENST00000682170.1:n.195T>G
ENST00000316623.10:c.6586T>G MANE Select	ENSP00000325527.5:p.Phe2196Val
ENST00000674301.1:c.1585T>G	ENSP00000501333.1:p.Phe529Val
ENST00000316623.9:c.6586T>G	ENSP00000325527.5:p.Phe2196Val
ENST00000537463.6:c.*2349T>G	ENSP00000440294.2:n.*2349T>G
ENST00000559133.5:c.1893T>G
NM_000138.4:c.6586T>G , LRG_778t1:c.6586T>G	NP_000129.3:p.Phe2196Val
NM_000138.5:c.6586T>G MANE Select	NP_000129.3:p.Phe2196Val