Canonical Allele Identifier: CA011930

Gene: FBN1

Linked Data

• ClinVar Variation Id: 199963
• ClinVar RCV Id: RCV000181424 ; RCV000457438 ; RCV000602307 ; RCV000684777 ; RCV001374819 ; RCV001000174 ; RCV001175536
• dbSNP Id: rs794728165
• MyVariant Identifiers: chr15:g.48812913G>A (hg19) ; chr15:g.48520716G>A (hg38)
• PubMed: PMID:12938084 ; PMID:17657824 ; PMID:17663468 ; PMID:19293843 ; PMID:25652356

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520716G>A , CM000677.2:g.48520716G>A	GRCh38
NC_000015.9:g.48812913G>A , CM000677.1:g.48812913G>A	GRCh37
NC_000015.8:g.46600205G>A	NCBI36
NG_008805.2:g.130073C>T , LRG_778:g.130073C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1090C>T	ENSP00000453958.2:p.Arg364Ter
ENST00000674301.2:c.1090C>T	ENSP00000501333.2:p.Arg364Ter
ENST00000316623.10:c.1090C>T MANE Select	ENSP00000325527.5:p.Arg364Ter
ENST00000316623.9:c.1090C>T	ENSP00000325527.5:p.Arg364Ter
ENST00000537463.6:c.636+16995C>T	ENSP00000440294.2:n.636+16995C>T
NM_000138.4:c.1090C>T , LRG_778t1:c.1090C>T	NP_000129.3:p.Arg364Ter
NM_000138.5:c.1090C>T MANE Select	NP_000129.3:p.Arg364Ter