Canonical Allele Identifier: CA015441

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36083
• ClinVar RCV Id: RCV000029745 ; RCV001189911 ; RCV002513249 ; RCV003148624
• dbSNP Id: rs193922210
• gnomAD v2: 15-48888534-C-T
• gnomAD v3: 15-48596337-C-T
• gnomAD v4: 15-48596337-C-T
• MyVariant Identifiers: chr15:g.48888534C>T (hg19) ; chr15:g.48596337C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48596337C>T , CM000677.2:g.48596337C>T	GRCh38
NC_000015.9:g.48888534C>T , CM000677.1:g.48888534C>T	GRCh37
NC_000015.8:g.46675826C>T	NCBI36
NG_008805.2:g.54452G>A , LRG_778:g.54452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.484G>A	ENSP00000453958.2:p.Ala162Thr
ENST00000674301.2:c.484G>A	ENSP00000501333.2:p.Ala162Thr
ENST00000316623.10:c.484G>A MANE Select	ENSP00000325527.5:p.Ala162Thr
ENST00000316623.9:c.484G>A	ENSP00000325527.5:p.Ala162Thr
ENST00000537463.6:c.484G>A	ENSP00000440294.2:p.Ala162Thr
NM_000138.4:c.484G>A , LRG_778t1:c.484G>A	NP_000129.3:p.Ala162Thr
NM_000138.5:c.484G>A MANE Select	NP_000129.3:p.Ala162Thr