Canonical Allele Identifier: CA392340092

Gene: FBN1

Linked Data

• ClinVar Variation Id: 430389
• ClinVar RCV Id: RCV000494160 ; RCV000663825 ; RCV000699760
• dbSNP Id: rs1131691938
• MyVariant Identifiers: chr15:g.48737651A>G (hg19) ; chr15:g.48445454A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445454A>G , CM000677.2:g.48445454A>G	GRCh38
NC_000015.9:g.48737651A>G , CM000677.1:g.48737651A>G	GRCh37
NC_000015.8:g.46524943A>G	NCBI36
NG_008805.2:g.205335T>C , LRG_778:g.205335T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5839T>C	ENSP00000453958.2:p.Cys1947Arg
ENST00000674301.2:c.5839T>C	ENSP00000501333.2:p.Cys1947Arg
ENST00000684448.1:n.4513T>C
ENST00000316623.10:c.5839T>C MANE Select	ENSP00000325527.5:p.Cys1947Arg
ENST00000674301.1:c.838T>C	ENSP00000501333.1:p.Cys280Arg
ENST00000316623.9:c.5839T>C	ENSP00000325527.5:p.Cys1947Arg
ENST00000537463.6:c.*1602T>C	ENSP00000440294.2:n.*1602T>C
ENST00000559133.5:c.1146T>C
NM_000138.4:c.5839T>C , LRG_778t1:c.5839T>C	NP_000129.3:p.Cys1947Arg
NM_000138.5:c.5839T>C MANE Select	NP_000129.3:p.Cys1947Arg