Canonical Allele Identifier: CA16619939

Gene: FBN1

Linked Data

• ClinVar Variation Id: 423498
• ClinVar RCV Id: RCV000484944 ; RCV000780264 ; RCV001378272
• dbSNP Id: rs112118237
• MyVariant Identifiers: chr15:g.48712928C>A (hg19) ; chr15:g.48420731C>A (hg38)
• ERepo: CA16619939/MONDO:0007947/022

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420731C>A , CM000677.2:g.48420731C>A	GRCh38
NC_000015.9:g.48712928C>A , CM000677.1:g.48712928C>A	GRCh37
NC_000015.8:g.46500220C>A	NCBI36
NG_008805.2:g.230058G>T , LRG_778:g.230058G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*583G>T	ENSP00000453958.2:n.*583G>T
ENST00000674301.2:c.*1288G>T	ENSP00000501333.2:n.*1288G>T
ENST00000682170.1:n.1956G>T
ENST00000682767.1:n.1072G>T
ENST00000316623.10:c.7775G>T MANE Select	ENSP00000325527.5:p.Cys2592Phe
ENST00000674301.1:c.2941G>T	ENSP00000501333.1:n.2941G>T
ENST00000316623.9:c.7775G>T	ENSP00000325527.5:p.Cys2592Phe
ENST00000559133.5:c.3144G>T
NM_000138.4:c.7775G>T , LRG_778t1:c.7775G>T	NP_000129.3:p.Cys2592Phe
NM_000138.5:c.7775G>T MANE Select	NP_000129.3:p.Cys2592Phe