Canonical Allele Identifier: CA014381

Gene: FBN1

Linked Data

• ClinVar Variation Id: 16440
• ClinVar RCV Id: RCV000017902 ; RCV000029732 ; RCV000181647 ; RCV000626614 ; RCV001000178 ; RCV001201375 ; RCV001798007 ; RCV002496395
• dbSNP Id: rs137854467
• COSMIC: COSM3420364
• MyVariant Identifiers: chr15:g.48892414G>A (hg19) ; chr15:g.48600217G>A (hg38)
• PubMed: PMID:8040326 ; PMID:9452085 ; PMID:11700157 ; PMID:12446365 ; PMID:17679947 ; PMID:19089573 ; PMID:19293843 ; PMID:19839986 ; PMID:21895641 ; PMID:21932315 ; PMID:24161884 ; PMID:24199744 ; PMID:25053872

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48600217G>A , CM000677.2:g.48600217G>A	GRCh38
NC_000015.9:g.48892414G>A , CM000677.1:g.48892414G>A	GRCh37
NC_000015.8:g.46679706G>A	NCBI36
NG_008805.2:g.50572C>T , LRG_778:g.50572C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.364C>T	ENSP00000453958.2:p.Arg122Cys
ENST00000674301.2:c.364C>T	ENSP00000501333.2:p.Arg122Cys
ENST00000316623.10:c.364C>T MANE Select	ENSP00000325527.5:p.Arg122Cys
ENST00000316623.9:c.364C>T	ENSP00000325527.5:p.Arg122Cys
ENST00000537463.6:c.364C>T	ENSP00000440294.2:p.Arg122Cys
NM_000138.4:c.364C>T , LRG_778t1:c.364C>T	NP_000129.3:p.Arg122Cys
NM_000138.5:c.364C>T MANE Select	NP_000129.3:p.Arg122Cys