Canonical Allele Identifier: CA017551
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161240
ClinVar RCV Id: RCV000148495 RCV001040428 RCV001582618 RCV001804856
dbSNP Id: rs371375126
gnomAD v2: 15-48704911-C-T
gnomAD v4: 15-48412714-C-T
MyVariant Identifiers: chr15:g.48704911C>T (hg19) chr15:g.48412714C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48412714C>T , CM000677.2:g.48412714C>T GRCh38
NC_000015.9:g.48704911C>T , CM000677.1:g.48704911C>T GRCh37
NC_000015.8:g.46492203C>T NCBI36
NG_008805.2:g.238075G>A , LRG_778:g.238075G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*889G>A ENSP00000453958.2:n.*889G>A
ENST00000674301.2:c.*1594G>A ENSP00000501333.2:n.*1594G>A
ENST00000682158.1:n.1462G>A
ENST00000682170.1:n.2262G>A
ENST00000682767.1:n.1378G>A
ENST00000316623.10:c.8081G>A MANE Select ENSP00000325527.5:p.Arg2694Gln
ENST00000674301.1:c.3247G>A ENSP00000501333.1:n.3247G>A
ENST00000316623.9:c.8081G>A ENSP00000325527.5:p.Arg2694Gln
ENST00000559133.5:c.3450G>A
ENST00000561429.1:n.336G>A
NM_000138.4:c.8081G>A , LRG_778t1:c.8081G>A NP_000129.3:p.Arg2694Gln
NM_000138.5:c.8081G>A MANE Select NP_000129.3:p.Arg2694Gln
Search 100 bp 5'
Search 100 bp 3'