Canonical Allele Identifier: CA392330885
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 626586
ClinVar RCV Id: RCV000769624 RCV002487569 RCV002533951 RCV003999928 RCV004535896
dbSNP Id: rs363830
gnomAD v2: 15-48720652-C-A
gnomAD v3: 15-48428455-C-A
gnomAD v4: 15-48428455-C-A
MyVariant Identifiers: chr15:g.48720652C>A (hg19) chr15:g.48428455C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428455C>A , CM000677.2:g.48428455C>A GRCh38
NC_000015.9:g.48720652C>A , CM000677.1:g.48720652C>A GRCh37
NC_000015.8:g.46507944C>A NCBI36
NG_008805.2:g.222334G>T , LRG_778:g.222334G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6888G>T ENSP00000453958.2:p.Gln2296His
ENST00000674301.2:c.*339G>T ENSP00000501333.2:n.*339G>T
ENST00000682170.1:n.497G>T
ENST00000682767.1:n.123G>T
ENST00000316623.10:c.6888G>T MANE Select ENSP00000325527.5:p.Gln2296His
ENST00000674301.1:c.1992G>T ENSP00000501333.1:n.1992G>T
ENST00000316623.9:c.6888G>T ENSP00000325527.5:p.Gln2296His
ENST00000559133.5:c.2195G>T
ENST00000560720.1:n.175G>T
NM_000138.4:c.6888G>T , LRG_778t1:c.6888G>T NP_000129.3:p.Gln2296His
NM_000138.5:c.6888G>T MANE Select NP_000129.3:p.Gln2296His
Search 100 bp 5'
Search 100 bp 3'