Canonical Allele Identifier: CA017414

Gene: FBN1

Linked Data

• ClinVar Variation Id: 161237
• ClinVar RCV Id: RCV000148491 ; RCV000552622 ; RCV000593778 ; RCV001118563 ; RCV001118564 ; RCV001118565 ; RCV001118566 ; RCV001118561 ; RCV001118562
• dbSNP Id: rs143677764
• ExAC: 15:48707938 T / C
• gnomAD v2: 15-48707938-T-C
• gnomAD v3: 15-48415741-T-C
• gnomAD v4: 15-48415741-T-C
• MyVariant Identifiers: chr15:g.48707938T>C (hg19) ; chr15:g.48415741T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415741T>C , CM000677.2:g.48415741T>C	GRCh38
NC_000015.9:g.48707938T>C , CM000677.1:g.48707938T>C	GRCh37
NC_000015.8:g.46495230T>C	NCBI36
NG_008805.2:g.235048A>G , LRG_778:g.235048A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*654A>G	ENSP00000453958.2:n.*654A>G
ENST00000674301.2:c.*1359A>G	ENSP00000501333.2:n.*1359A>G
ENST00000682158.1:n.1227A>G
ENST00000682170.1:n.2027A>G
ENST00000682767.1:n.1143A>G
ENST00000316623.10:c.7846A>G MANE Select	ENSP00000325527.5:p.Ile2616Val
ENST00000674301.1:c.3012A>G	ENSP00000501333.1:n.3012A>G
ENST00000316623.9:c.7846A>G	ENSP00000325527.5:p.Ile2616Val
ENST00000559133.5:c.3215A>G
ENST00000561429.1:n.101A>G
NM_000138.4:c.7846A>G , LRG_778t1:c.7846A>G	NP_000129.3:p.Ile2616Val
NM_000138.5:c.7846A>G MANE Select	NP_000129.3:p.Ile2616Val