Canonical Allele Identifier: CA392337149

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1712055
• ClinVar RCV Id: RCV002293773 ; RCV003774981
• MyVariant Identifiers: chr15:g.48730070A>G (hg19) ; chr15:g.48437873A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437873A>G , CM000677.2:g.48437873A>G	GRCh38
NC_000015.9:g.48730070A>G , CM000677.1:g.48730070A>G	GRCh37
NC_000015.8:g.46517362A>G	NCBI36
NG_008805.2:g.212916T>C , LRG_778:g.212916T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6208T>C	ENSP00000453958.2:p.Cys2070Arg
ENST00000674301.2:c.6208T>C	ENSP00000501333.2:p.Cys2070Arg
ENST00000316623.10:c.6208T>C MANE Select	ENSP00000325527.5:p.Cys2070Arg
ENST00000674301.1:c.1207T>C	ENSP00000501333.1:p.Cys403Arg
ENST00000316623.9:c.6208T>C	ENSP00000325527.5:p.Cys2070Arg
ENST00000537463.6:c.*1971T>C	ENSP00000440294.2:n.*1971T>C
ENST00000559133.5:c.1515T>C
ENST00000560820.1:n.328T>C
NM_000138.4:c.6208T>C , LRG_778t1:c.6208T>C	NP_000129.3:p.Cys2070Arg
NM_000138.5:c.6208T>C MANE Select	NP_000129.3:p.Cys2070Arg