Canonical Allele Identifier: CA392319040

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1329520
• ClinVar RCV Id: RCV001799828
• dbSNP Id: rs1597506745
• gnomAD v4: 15-48411165-T-C
• MyVariant Identifiers: chr15:g.48703362T>C (hg19) ; chr15:g.48411165T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411165T>C , CM000677.2:g.48411165T>C	GRCh38
NC_000015.9:g.48703362T>C , CM000677.1:g.48703362T>C	GRCh37
NC_000015.8:g.46490654T>C	NCBI36
NG_008805.2:g.239624A>G , LRG_778:g.239624A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1249A>G	ENSP00000453958.2:n.*1249A>G
ENST00000674301.2:c.*1954A>G	ENSP00000501333.2:n.*1954A>G
ENST00000682158.1:n.1822A>G
ENST00000682170.1:n.2622A>G
ENST00000682767.1:n.1738A>G
ENST00000316623.10:c.8441A>G MANE Select	ENSP00000325527.5:p.Tyr2814Cys
ENST00000674301.1:c.3607A>G	ENSP00000501333.1:n.3607A>G
ENST00000316623.9:c.8441A>G	ENSP00000325527.5:p.Tyr2814Cys
ENST00000559133.5:c.3810A>G
NM_000138.4:c.8441A>G , LRG_778t1:c.8441A>G	NP_000129.3:p.Tyr2814Cys
NM_000138.5:c.8441A>G MANE Select	NP_000129.3:p.Tyr2814Cys