Canonical Allele Identifier: CA10583241

Gene: FBN1

Linked Data

• ClinVar Variation Id: 237100
• ClinVar RCV Id: RCV000227015 ; RCV001388234 ; RCV002315679
• dbSNP Id: rs878853686
• MyVariant Identifiers: chr15:g.48739008A>G (hg19) ; chr15:g.48446811A>G (hg38)
• PubMed: PMID:8653794 ; PMID:11059536 ; PMID:15161917 ; PMID:16222657

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446811A>G , CM000677.2:g.48446811A>G	GRCh38
NC_000015.9:g.48739008A>G , CM000677.1:g.48739008A>G	GRCh37
NC_000015.8:g.46526300A>G	NCBI36
NG_008805.2:g.203978T>C , LRG_778:g.203978T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5683T>C	ENSP00000453958.2:p.Cys1895Arg
ENST00000674301.2:c.5683T>C	ENSP00000501333.2:p.Cys1895Arg
ENST00000684448.1:n.4357T>C
ENST00000316623.10:c.5683T>C MANE Select	ENSP00000325527.5:p.Cys1895Arg
ENST00000674301.1:c.682T>C	ENSP00000501333.1:p.Cys228Arg
ENST00000316623.9:c.5683T>C	ENSP00000325527.5:p.Cys1895Arg
ENST00000537463.6:c.*1446T>C	ENSP00000440294.2:n.*1446T>C
ENST00000559133.5:c.990T>C
NM_000138.4:c.5683T>C , LRG_778t1:c.5683T>C	NP_000129.3:p.Cys1895Arg
NM_000138.5:c.5683T>C MANE Select	NP_000129.3:p.Cys1895Arg