Canonical Allele Identifier: CA16614384

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406263
• ClinVar RCV Id: RCV001560619 ; RCV001378110
• dbSNP Id: rs1060501014
• MyVariant Identifiers: chr15:g.48707764A>G (hg19) ; chr15:g.48415567A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415567A>G , CM000677.2:g.48415567A>G	GRCh38
NC_000015.9:g.48707764A>G , CM000677.1:g.48707764A>G	GRCh37
NC_000015.8:g.46495056A>G	NCBI36
NG_008805.2:g.235222T>C , LRG_778:g.235222T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*828T>C	ENSP00000453958.2:n.*828T>C
ENST00000674301.2:c.*1533T>C	ENSP00000501333.2:n.*1533T>C
ENST00000682158.1:n.1401T>C
ENST00000682170.1:n.2201T>C
ENST00000682767.1:n.1317T>C
ENST00000316623.10:c.8020T>C MANE Select	ENSP00000325527.5:p.Cys2674Arg
ENST00000674301.1:c.3186T>C	ENSP00000501333.1:n.3186T>C
ENST00000316623.9:c.8020T>C	ENSP00000325527.5:p.Cys2674Arg
ENST00000559133.5:c.3389T>C
ENST00000561429.1:n.275T>C
NM_000138.4:c.8020T>C , LRG_778t1:c.8020T>C	NP_000129.3:p.Cys2674Arg
NM_000138.5:c.8020T>C MANE Select	NP_000129.3:p.Cys2674Arg