Canonical Allele Identifier: CA392319165

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1330616
• ClinVar RCV Id: RCV001811755
• dbSNP Id: rs2141209869
• MyVariant Identifiers: chr15:g.48703395A>G (hg19) ; chr15:g.48411198A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411198A>G , CM000677.2:g.48411198A>G	GRCh38
NC_000015.9:g.48703395A>G , CM000677.1:g.48703395A>G	GRCh37
NC_000015.8:g.46490687A>G	NCBI36
NG_008805.2:g.239591T>C , LRG_778:g.239591T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1216T>C	ENSP00000453958.2:n.*1216T>C
ENST00000674301.2:c.*1921T>C	ENSP00000501333.2:n.*1921T>C
ENST00000682158.1:n.1789T>C
ENST00000682170.1:n.2589T>C
ENST00000682767.1:n.1705T>C
ENST00000316623.10:c.8408T>C MANE Select	ENSP00000325527.5:p.Phe2803Ser
ENST00000674301.1:c.3574T>C	ENSP00000501333.1:n.3574T>C
ENST00000316623.9:c.8408T>C	ENSP00000325527.5:p.Phe2803Ser
ENST00000559133.5:c.3777T>C
NM_000138.4:c.8408T>C , LRG_778t1:c.8408T>C	NP_000129.3:p.Phe2803Ser
NM_000138.5:c.8408T>C MANE Select	NP_000129.3:p.Phe2803Ser