Canonical Allele Identifier: CA392320067

Gene: FBN1

Linked Data

• dbSNP Id: rs1231914510
• gnomAD v2: 15-48703543-C-T
• gnomAD v4: 15-48411346-C-T
• MyVariant Identifiers: chr15:g.48703543C>T (hg19) ; chr15:g.48411346C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411346C>T , CM000677.2:g.48411346C>T	GRCh38
NC_000015.9:g.48703543C>T , CM000677.1:g.48703543C>T	GRCh37
NC_000015.8:g.46490835C>T	NCBI36
NG_008805.2:g.239443G>A , LRG_778:g.239443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1068G>A	ENSP00000453958.2:n.*1068G>A
ENST00000674301.2:c.*1773G>A	ENSP00000501333.2:n.*1773G>A
ENST00000682158.1:n.1641G>A
ENST00000682170.1:n.2441G>A
ENST00000682767.1:n.1557G>A
ENST00000316623.10:c.8260G>A MANE Select	ENSP00000325527.5:p.Ala2754Thr
ENST00000674301.1:c.3426G>A	ENSP00000501333.1:n.3426G>A
ENST00000316623.9:c.8260G>A	ENSP00000325527.5:p.Ala2754Thr
ENST00000559133.5:c.3629G>A
ENST00000561429.1:n.515G>A
NM_000138.4:c.8260G>A , LRG_778t1:c.8260G>A	NP_000129.3:p.Ala2754Thr
NM_000138.5:c.8260G>A MANE Select	NP_000129.3:p.Ala2754Thr