Canonical Allele Identifier: CA392338092
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 840655
ClinVar RCV Id: RCV001042697
dbSNP Id: rs2043116688

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441754A>C , CM000677.2:g.48441754A>C GRCh38
NC_000015.9:g.48733951A>C , CM000677.1:g.48733951A>C GRCh37
NC_000015.8:g.46521243A>C NCBI36
NG_008805.2:g.209035T>G , LRG_778:g.209035T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6130T>G ENSP00000453958.2:p.Phe2044Val
ENST00000674301.2:c.6130T>G ENSP00000501333.2:p.Phe2044Val
ENST00000316623.10:c.6130T>G MANE Select ENSP00000325527.5:p.Phe2044Val
ENST00000674301.1:c.1129T>G ENSP00000501333.1:p.Phe377Val
ENST00000316623.9:c.6130T>G ENSP00000325527.5:p.Phe2044Val
ENST00000537463.6:c.*1893T>G ENSP00000440294.2:n.*1893T>G
ENST00000559133.5:c.1437T>G
ENST00000560820.1:n.250T>G
NM_000138.4:c.6130T>G , LRG_778t1:c.6130T>G NP_000129.3:p.Phe2044Val
NM_000138.5:c.6130T>G MANE Select NP_000129.3:p.Phe2044Val