Canonical Allele Identifier: CA017797

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36132
• ClinVar RCV Id: RCV000029795 ; RCV000154577 ; RCV000233059 ; RCV000251299 ; RCV000270046 ; RCV000271998 ; RCV000305317 ; RCV000386370 ; RCV000366578 ; RCV001727517 ; RCV004541023
• dbSNP Id: rs363847
• ExAC: 15:48703301 A / G
• gnomAD v2: 15-48703301-A-G
• gnomAD v3: 15-48411104-A-G
• gnomAD v4: 15-48411104-A-G
• MyVariant Identifiers: chr15:g.48703301A>G (hg19) ; chr15:g.48411104A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411104A>G , CM000677.2:g.48411104A>G	GRCh38
NC_000015.9:g.48703301A>G , CM000677.1:g.48703301A>G	GRCh37
NC_000015.8:g.46490593A>G	NCBI36
NG_008805.2:g.239685T>C , LRG_778:g.239685T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1310T>C	ENSP00000453958.2:n.*1310T>C
ENST00000674301.2:c.*2015T>C	ENSP00000501333.2:n.*2015T>C
ENST00000682158.1:n.1883T>C
ENST00000682170.1:n.2683T>C
ENST00000682767.1:n.1799T>C
ENST00000316623.10:c.8502T>C MANE Select	ENSP00000325527.5:p.Thr2834=
ENST00000674301.1:c.3668T>C	ENSP00000501333.1:n.3668T>C
ENST00000316623.9:c.8502T>C	ENSP00000325527.5:p.Thr2834=
ENST00000559133.5:c.3871T>C
NM_000138.4:c.8502T>C , LRG_778t1:c.8502T>C	NP_000129.3:p.Thr2834=
NM_000138.5:c.8502T>C MANE Select	NP_000129.3:p.Thr2834=