Canonical Allele Identifier: CA353663

Gene: FBN1

Linked Data

• ClinVar Variation Id: 222610
• ClinVar RCV Id: RCV000208376 ; RCV002515543 ; RCV003144160
• dbSNP Id: rs869025412
• MyVariant Identifiers: chr15:g.48722919A>G (hg19) ; chr15:g.48430722A>G (hg38)
• ERepo: CA353663/MONDO:0007947/022

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430722A>G , CM000677.2:g.48430722A>G	GRCh38
NC_000015.9:g.48722919A>G , CM000677.1:g.48722919A>G	GRCh37
NC_000015.8:g.46510211A>G	NCBI36
NG_008805.2:g.220067T>C , LRG_778:g.220067T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6820T>C	ENSP00000453958.2:p.Cys2274Arg
ENST00000674301.2:c.*271T>C	ENSP00000501333.2:n.*271T>C
ENST00000682170.1:n.429T>C
ENST00000316623.10:c.6820T>C MANE Select	ENSP00000325527.5:p.Cys2274Arg
ENST00000674301.1:c.1924T>C	ENSP00000501333.1:n.1924T>C
ENST00000316623.9:c.6820T>C	ENSP00000325527.5:p.Cys2274Arg
ENST00000559133.5:c.2127T>C
ENST00000560720.1:n.107T>C
NM_000138.4:c.6820T>C , LRG_778t1:c.6820T>C	NP_000129.3:p.Cys2274Arg
NM_000138.5:c.6820T>C MANE Select	NP_000129.3:p.Cys2274Arg