Canonical Allele Identifier: CA392318798

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1928415
• ClinVar RCV Id: RCV002614521
• MyVariant Identifiers: chr15:g.48703306T>C (hg19) ; chr15:g.48411109T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411109T>C , CM000677.2:g.48411109T>C	GRCh38
NC_000015.9:g.48703306T>C , CM000677.1:g.48703306T>C	GRCh37
NC_000015.8:g.46490598T>C	NCBI36
NG_008805.2:g.239680A>G , LRG_778:g.239680A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1305A>G	ENSP00000453958.2:n.*1305A>G
ENST00000674301.2:c.*2010A>G	ENSP00000501333.2:n.*2010A>G
ENST00000682158.1:n.1878A>G
ENST00000682170.1:n.2678A>G
ENST00000682767.1:n.1794A>G
ENST00000316623.10:c.8497A>G MANE Select	ENSP00000325527.5:p.Ser2833Gly
ENST00000674301.1:c.3663A>G	ENSP00000501333.1:n.3663A>G
ENST00000316623.9:c.8497A>G	ENSP00000325527.5:p.Ser2833Gly
ENST00000559133.5:c.3866A>G
NM_000138.4:c.8497A>G , LRG_778t1:c.8497A>G	NP_000129.3:p.Ser2833Gly
NM_000138.5:c.8497A>G MANE Select	NP_000129.3:p.Ser2833Gly