Canonical Allele Identifier: CA392346026

Gene: FBN1

Linked Data

• ClinVar Variation Id: 449439
• ClinVar RCV Id: RCV000663779 ; RCV000521486 ; RCV001851486 ; RCV002314906
• dbSNP Id: rs1555396427
• MyVariant Identifiers: chr15:g.48748885A>G (hg19) ; chr15:g.48456688A>G (hg38)
• PubMed: PMID:11700157 ; PMID:15062093 ; PMID:16220557 ; PMID:17627385 ; PMID:21907952

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48456688A>G , CM000677.2:g.48456688A>G	GRCh38
NC_000015.9:g.48748885A>G , CM000677.1:g.48748885A>G	GRCh37
NC_000015.8:g.46536177A>G	NCBI36
NG_008805.2:g.194101T>C , LRG_778:g.194101T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5371T>C	ENSP00000453958.2:p.Cys1791Arg
ENST00000674301.2:c.5371T>C	ENSP00000501333.2:p.Cys1791Arg
ENST00000684448.1:n.4045T>C
ENST00000316623.10:c.5371T>C MANE Select	ENSP00000325527.5:p.Cys1791Arg
ENST00000674301.1:c.370T>C	ENSP00000501333.1:p.Cys124Arg
ENST00000316623.9:c.5371T>C	ENSP00000325527.5:p.Cys1791Arg
ENST00000537463.6:c.*1134T>C	ENSP00000440294.2:n.*1134T>C
ENST00000559133.5:c.678T>C
NM_000138.4:c.5371T>C , LRG_778t1:c.5371T>C	NP_000129.3:p.Cys1791Arg
NM_000138.5:c.5371T>C MANE Select	NP_000129.3:p.Cys1791Arg