Canonical Allele Identifier: CA392325928

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1171268
• ClinVar RCV Id: RCV001524226
• dbSNP Id: rs1034405424
• MyVariant Identifiers: chr15:g.48714197T>C (hg19) ; chr15:g.48422000T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422000T>C , CM000677.2:g.48422000T>C	GRCh38
NC_000015.9:g.48714197T>C , CM000677.1:g.48714197T>C	GRCh37
NC_000015.8:g.46501489T>C	NCBI36
NG_008805.2:g.228789A>G , LRG_778:g.228789A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*330A>G	ENSP00000453958.2:n.*330A>G
ENST00000674301.2:c.*1035A>G	ENSP00000501333.2:n.*1035A>G
ENST00000682170.1:n.1703A>G
ENST00000682767.1:n.819A>G
ENST00000316623.10:c.7522A>G MANE Select	ENSP00000325527.5:p.Thr2508Ala
ENST00000674301.1:c.2688A>G	ENSP00000501333.1:n.2688A>G
ENST00000316623.9:c.7522A>G	ENSP00000325527.5:p.Thr2508Ala
ENST00000559133.5:c.2891A>G
NM_000138.4:c.7522A>G , LRG_778t1:c.7522A>G	NP_000129.3:p.Thr2508Ala
NM_000138.5:c.7522A>G MANE Select	NP_000129.3:p.Thr2508Ala