Canonical Allele Identifier: CA392319200

Gene: FBN1

Linked Data

• ClinVar Variation Id: 922752
• ClinVar RCV Id: RCV001182975 ; RCV002505777 ; RCV004008340
• dbSNP Id: rs868087455
• gnomAD v4: 15-48411205-C-G
• MyVariant Identifiers: chr15:g.48703402C>G (hg19) ; chr15:g.48411205C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411205C>G , CM000677.2:g.48411205C>G	GRCh38
NC_000015.9:g.48703402C>G , CM000677.1:g.48703402C>G	GRCh37
NC_000015.8:g.46490694C>G	NCBI36
NG_008805.2:g.239584G>C , LRG_778:g.239584G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1209G>C	ENSP00000453958.2:n.*1209G>C
ENST00000674301.2:c.*1914G>C	ENSP00000501333.2:n.*1914G>C
ENST00000682158.1:n.1782G>C
ENST00000682170.1:n.2582G>C
ENST00000682767.1:n.1698G>C
ENST00000316623.10:c.8401G>C MANE Select	ENSP00000325527.5:p.Asp2801His
ENST00000674301.1:c.3567G>C	ENSP00000501333.1:n.3567G>C
ENST00000316623.9:c.8401G>C	ENSP00000325527.5:p.Asp2801His
ENST00000559133.5:c.3770G>C
ENST00000561429.1:n.656G>C
NM_000138.4:c.8401G>C , LRG_778t1:c.8401G>C	NP_000129.3:p.Asp2801His
NM_000138.5:c.8401G>C MANE Select	NP_000129.3:p.Asp2801His