Canonical Allele Identifier: CA392326268

Gene: FBN1

Linked Data

• ClinVar Variation Id: 982345
• ClinVar RCV Id: RCV001374811
• dbSNP Id: rs2141222601
• MyVariant Identifiers: chr15:g.48714263G>C (hg19) ; chr15:g.48422066G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422066G>C , CM000677.2:g.48422066G>C	GRCh38
NC_000015.9:g.48714263G>C , CM000677.1:g.48714263G>C	GRCh37
NC_000015.8:g.46501555G>C	NCBI36
NG_008805.2:g.228723C>G , LRG_778:g.228723C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*264C>G	ENSP00000453958.2:n.*264C>G
ENST00000674301.2:c.*969C>G	ENSP00000501333.2:n.*969C>G
ENST00000682170.1:n.1637C>G
ENST00000682767.1:n.753C>G
ENST00000316623.10:c.7456C>G MANE Select	ENSP00000325527.5:p.Leu2486Val
ENST00000674301.1:c.2622C>G	ENSP00000501333.1:n.2622C>G
ENST00000316623.9:c.7456C>G	ENSP00000325527.5:p.Leu2486Val
ENST00000559133.5:c.2825C>G
NM_000138.4:c.7456C>G , LRG_778t1:c.7456C>G	NP_000129.3:p.Leu2486Val
NM_000138.5:c.7456C>G MANE Select	NP_000129.3:p.Leu2486Val